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'en:incidence of 1 in 250,000 births'
(id=6946573 ; fe=en:incidence of 1 in 250,000 births ; type=1 ; niveau=200 ; luminosité=25 ; somme entrante=125543 creation date=2017-06-25 touchdate=2025-07-25 19:06:30.000)
≈ 5600 relations sortantes

  1. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:adrenal insufficiency usually develops later (first decade)
    n1=en:incidence of 1 in 250,000 births | n2=en:adrenal insufficiency usually develops later (first decade) | rel=r_associated | relid=0 | w=43
  2. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:adult onset (20 to 40 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (20 to 40 years) | rel=r_associated | relid=0 | w=43
  3. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:adult onset (after age 35 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (after age 35 years) | rel=r_associated | relid=0 | w=43
  4. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:allelic to anterior segment mesenchymal dysgenesis (107250)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to anterior segment mesenchymal dysgenesis (107250) | rel=r_associated | relid=0 | w=43
  5. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:anemia does not respond to alpha-interferon treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:anemia does not respond to alpha-interferon treatment | rel=r_associated | relid=0 | w=43
  6. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:autosomal dominant inheritance has been rarely reported (187800)
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal dominant inheritance has been rarely reported (187800) | rel=r_associated | relid=0 | w=43
  7. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:autosomal recessive cases tend to have a more severe phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal recessive cases tend to have a more severe phenotype | rel=r_associated | relid=0 | w=43
  8. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:death by age 6-7 years
    n1=en:incidence of 1 in 250,000 births | n2=en:death by age 6-7 years | rel=r_associated | relid=0 | w=43
  9. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:fatal before age 2 years
    n1=en:incidence of 1 in 250,000 births | n2=en:fatal before age 2 years | rel=r_associated | relid=0 | w=43
  10. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:feeding difficulties, including aspiration, ameliorate with age
    n1=en:incidence of 1 in 250,000 births | n2=en:feeding difficulties, including aspiration, ameliorate with age | rel=r_associated | relid=0 | w=43
  11. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:five patients have been reported (as of june 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:five patients have been reported (as of june 2011) | rel=r_associated | relid=0 | w=43
  12. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:genetic heterogeneity (see 613254)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see 613254) | rel=r_associated | relid=0 | w=43
  13. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:genetic heterogeneity, see ekd1 (128200)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity, see ekd1 (128200) | rel=r_associated | relid=0 | w=43
  14. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:genetic heterogeneity, see mitochondrial inheritance of the disorder (500003)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity, see mitochondrial inheritance of the disorder (500003) | rel=r_associated | relid=0 | w=43
  15. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:genetic heterogeneity, see spg5a (270800) for overview of recessive spgs
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity, see spg5a (270800) for overview of recessive spgs | rel=r_associated | relid=0 | w=43
  16. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:gestational age:time:pt:^fetus:qn:amniocentesis
    n1=en:incidence of 1 in 250,000 births | n2=en:gestational age:time:pt:^fetus:qn:amniocentesis | rel=r_associated | relid=0 | w=43
  17. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:incidence of 1 in 20,000 live births
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 20,000 live births | rel=r_associated | relid=0 | w=43
  18. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:incidence of 1 per 10,000 births in japan
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 per 10,000 births in japan | rel=r_associated | relid=0 | w=43
  19. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:individuals with the pcs trait are phenotypically normal
    n1=en:incidence of 1 in 250,000 births | n2=en:individuals with the pcs trait are phenotypically normal | rel=r_associated | relid=0 | w=43
  20. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:intracellular accumulation of material can occur in neuronal and nonneuronal cells
    n1=en:incidence of 1 in 250,000 births | n2=en:intracellular accumulation of material can occur in neuronal and nonneuronal cells | rel=r_associated | relid=0 | w=43
  21. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:majority of cases have been sporadic
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of cases have been sporadic | rel=r_associated | relid=0 | w=43
  22. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:median age of diagnosis is 28 years
    n1=en:incidence of 1 in 250,000 births | n2=en:median age of diagnosis is 28 years | rel=r_associated | relid=0 | w=43
  23. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:neurologic features are variable and not progressive
    n1=en:incidence of 1 in 250,000 births | n2=en:neurologic features are variable and not progressive | rel=r_associated | relid=0 | w=43
  24. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:no clinical manifestations were noted (incidental laboratory finding)
    n1=en:incidence of 1 in 250,000 births | n2=en:no clinical manifestations were noted (incidental laboratory finding) | rel=r_associated | relid=0 | w=43
  25. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:one family has been reported (as of july 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (as of july 2011) | rel=r_associated | relid=0 | w=43
  26. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:one family has been reported (as of june 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (as of june 2011) | rel=r_associated | relid=0 | w=43
  27. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:one family has been reported (as of september 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (as of september 2011) | rel=r_associated | relid=0 | w=43
  28. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:one family has been reported (last curated february 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (last curated february 2015) | rel=r_associated | relid=0 | w=43
  29. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:onset early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset early childhood | rel=r_associated | relid=0 | w=43
  30. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:onset of parkinsonism in early twenties
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of parkinsonism in early twenties | rel=r_associated | relid=0 | w=43
  31. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:onset of seizures in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of seizures in infancy | rel=r_associated | relid=0 | w=43
  32. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:patients are typically blind by second or third decade of life, but pace of visual deterioration is highly variable
    n1=en:incidence of 1 in 250,000 births | 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=43
  33. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:patients require achilles tendon lengthening in first or second decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:patients require achilles tendon lengthening in first or second decade of life | rel=r_associated | relid=0 | w=43
  34. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:phenotypic overlap with denys-drash syndrome (194080).
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic overlap with denys-drash syndrome (194080). | rel=r_associated | relid=0 | w=43
  35. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:progressive clinical course with onset in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:progressive clinical course with onset in childhood | rel=r_associated | relid=0 | w=43
  36. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:pulsatile headache lasts hours to days
    n1=en:incidence of 1 in 250,000 births | n2=en:pulsatile headache lasts hours to days | rel=r_associated | relid=0 | w=43
  37. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:repeat tracts may expand as patient ages (somatic instability)
    n1=en:incidence of 1 in 250,000 births | n2=en:repeat tracts may expand as patient ages (somatic instability) | rel=r_associated | relid=0 | w=43
  38. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:see also glanzmann thrombasthenia due to mutations in integrin alpha 2b (273800)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also glanzmann thrombasthenia due to mutations in integrin alpha 2b (273800) | rel=r_associated | relid=0 | w=43
  39. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:see also x-linked alpha-thalassemia/mental retardation syndrome (301040)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also x-linked alpha-thalassemia/mental retardation syndrome (301040) | rel=r_associated | relid=0 | w=43
  40. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:seizures tend to remit later in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures tend to remit later in childhood | rel=r_associated | relid=0 | w=43
  41. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:service comment 37:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=43
  42. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:skin blistering and photosensitivity improve in adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:skin blistering and photosensitivity improve in adulthood | rel=r_associated | relid=0 | w=43
  43. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:some patients have isolated cfeom
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients have isolated cfeom | rel=r_associated | relid=0 | w=43
  44. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:some patients never achieve walking or running
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients never achieve walking or running | rel=r_associated | relid=0 | w=43
  45. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:sporadic cases often single lesions versus multiple lesions in familial cases
    n1=en:incidence of 1 in 250,000 births | n2=en:sporadic cases often single lesions versus multiple lesions in familial cases | rel=r_associated | relid=0 | w=43
  46. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:striking intrafamilial variability
    n1=en:incidence of 1 in 250,000 births | n2=en:striking intrafamilial variability | rel=r_associated | relid=0 | w=43
  47. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:treatment with levodopa is not effective
    n1=en:incidence of 1 in 250,000 births | n2=en:treatment with levodopa is not effective | rel=r_associated | relid=0 | w=43
  48. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:triggered by use of antibiotics (24% of cases) and nonsteroidal antiinflammatory drugs (18% of cases)
    n1=en:incidence of 1 in 250,000 births | n2=en:triggered by use of antibiotics (24% of cases) and nonsteroidal antiinflammatory drugs (18% of cases) | rel=r_associated | relid=0 | w=43
  49. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty
    n1=en:incidence of 1 in 250,000 births | 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=43
  50. en:incidence of 1 in 250,000 births -- r_associated #0: 43 / 1 -> en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=43
  51. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:age of onset, 6-20 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset, 6-20 years | rel=r_associated | relid=0 | w=42
  52. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:age of onset/diagnosis 12-35 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset/diagnosis 12-35 years | rel=r_associated | relid=0 | w=42
  53. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:allelic disorder to dunnigan-type familial partial lipodystrophy (151660)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to dunnigan-type familial partial lipodystrophy (151660) | rel=r_associated | relid=0 | w=42
  54. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:allelic disorder to osmed (215150) allelic disorder to weissenbacher-zweymuller syndrome (277610)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to osmed (215150) allelic disorder to weissenbacher-zweymuller syndrome (277610) | rel=r_associated | relid=0 | w=42
  55. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610) | rel=r_associated | relid=0 | w=42
  56. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:autosomal recessive inheritance with decreased penetrance (50%) is associated with a susceptibility locus on chromosome 10q26
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal recessive inheritance with decreased penetrance (50%) is associated with a susceptibility locus on chromosome 10q26 | rel=r_associated | relid=0 | w=42
  57. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:death at 10 to 15 years
    n1=en:incidence of 1 in 250,000 births | n2=en:death at 10 to 15 years | rel=r_associated | relid=0 | w=42
  58. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:death usually in first year of life
    n1=en:incidence of 1 in 250,000 births | n2=en:death usually in first year of life | rel=r_associated | relid=0 | w=42
  59. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:death usually in teenage years
    n1=en:incidence of 1 in 250,000 births | n2=en:death usually in teenage years | rel=r_associated | relid=0 | w=42
  60. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:dramatic improvement with proper treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:dramatic improvement with proper treatment | rel=r_associated | relid=0 | w=42
  61. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only
    n1=en:incidence of 1 in 250,000 births | n2=en:female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only | rel=r_associated | relid=0 | w=42
  62. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:genetic heterogeneity (see, e.g., sli1 606711 and sli3 607134)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see, e.g., sli1 606711 and sli3 607134) | rel=r_associated | relid=0 | w=42
  63. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:hair phenotype present at birth and involves entire scalp region
    n1=en:incidence of 1 in 250,000 births | n2=en:hair phenotype present at birth and involves entire scalp region | rel=r_associated | relid=0 | w=42
  64. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:hearing loss affects all frequencies
    n1=en:incidence of 1 in 250,000 births | n2=en:hearing loss affects all frequencies | rel=r_associated | relid=0 | w=42
  65. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:l-dopa-induced dyskinesias
    n1=en:incidence of 1 in 250,000 births | n2=en:l-dopa-induced dyskinesias | rel=r_associated | relid=0 | w=42
  66. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:majority of cases in manitoba indians, northeastern manitoba, canada
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of cases in manitoba indians, northeastern manitoba, canada | rel=r_associated | relid=0 | w=42
  67. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:mean age at onset of muscle disease is 42 years (range 24-61)
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset of muscle disease is 42 years (range 24-61) | rel=r_associated | relid=0 | w=42
  68. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:mean age of diagnosis of uterine leiomyomas is 30 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age of diagnosis of uterine leiomyomas is 30 years | rel=r_associated | relid=0 | w=42
  69. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys
    n1=en:incidence of 1 in 250,000 births | 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=42
  70. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:median onset of proteinuria is 18 years (range 10 to 21)
    n1=en:incidence of 1 in 250,000 births | n2=en:median onset of proteinuria is 18 years (range 10 to 21) | rel=r_associated | relid=0 | w=42
  71. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:most common form of inherited, congenital hydrocephalus
    n1=en:incidence of 1 in 250,000 births | n2=en:most common form of inherited, congenital hydrocephalus | rel=r_associated | relid=0 | w=42
  72. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:multiple prenatal fractures
    n1=en:incidence of 1 in 250,000 births | n2=en:multiple prenatal fractures | rel=r_associated | relid=0 | w=42
  73. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:mutation in the mass1 gene has been identified in 1 of 48 families with familial febrile seizures linked to 5q14
    n1=en:incidence of 1 in 250,000 births | 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=42
  74. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:one large 4-generation uruguayan family reported (last curated august 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one large 4-generation uruguayan family reported (last curated august 2014) | rel=r_associated | relid=0 | w=42
  75. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:onset in childhood (range 4 to 12 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood (range 4 to 12 years) | rel=r_associated | relid=0 | w=42
  76. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:onset in first weeks to months of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in first weeks to months of life | rel=r_associated | relid=0 | w=42
  77. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:onset in neonatal period or before age 2 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in neonatal period or before age 2 years | rel=r_associated | relid=0 | w=42
  78. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:onset in neonatal period or early infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in neonatal period or early infancy | rel=r_associated | relid=0 | w=42
  79. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:onset of hearing loss ranges from childhood to young adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of hearing loss ranges from childhood to young adulthood | rel=r_associated | relid=0 | w=42
  80. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:performing laboratory:addr:pt:facility:nom
    n1=en:incidence of 1 in 250,000 births | n2=en:performing laboratory:addr:pt:facility:nom | rel=r_associated | relid=0 | w=42
  81. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:phenotypic overlap with frontotemporal dementia (600274)
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic overlap with frontotemporal dementia (600274) | rel=r_associated | relid=0 | w=42
  82. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:see also pseudohypoparathyroidism type ia (php1a, 103580)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also pseudohypoparathyroidism type ia (php1a, 103580) | rel=r_associated | relid=0 | w=42
  83. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:seizure onset after 3 months
    n1=en:incidence of 1 in 250,000 births | n2=en:seizure onset after 3 months | rel=r_associated | relid=0 | w=42
  84. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:service comment 23:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=42
  85. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:service comment 38:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=42
  86. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:severe involvement of legs
    n1=en:incidence of 1 in 250,000 births | n2=en:severe involvement of legs | rel=r_associated | relid=0 | w=42
  87. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:skin appears normal at birth, with development of generalized ichthyosis in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:skin appears normal at birth, with development of generalized ichthyosis in childhood | rel=r_associated | relid=0 | w=42
  88. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:some patients can attend special school
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients can attend special school | rel=r_associated | relid=0 | w=42
  89. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:some patients may show neurologic improvement late in life
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may show neurologic improvement late in life | rel=r_associated | relid=0 | w=42
  90. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:three unrelated caucasian patients have been reported (as of january 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:three unrelated caucasian patients have been reported (as of january 2012) | rel=r_associated | relid=0 | w=42
  91. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:two families have been reported (as of may 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two families have been reported (as of may 2012) | rel=r_associated | relid=0 | w=42
  92. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:two families have been reported (last curated december 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two families have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=42
  93. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:upper limb involvement in first decade
    n1=en:incidence of 1 in 250,000 births | n2=en:upper limb involvement in first decade | rel=r_associated | relid=0 | w=42
  94. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:variable age at onset, first to second decades
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset, first to second decades | rel=r_associated | relid=0 | w=42
  95. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:variable pattern of body involvement although symptoms may predominate in upper or lower body
    n1=en:incidence of 1 in 250,000 births | n2=en:variable pattern of body involvement although symptoms may predominate in upper or lower body | rel=r_associated | relid=0 | w=42
  96. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:variable severity, ranging from 'typical' to 'severe' disease
    n1=en:incidence of 1 in 250,000 births | n2=en:variable severity, ranging from 'typical' to 'severe' disease | rel=r_associated | relid=0 | w=42
  97. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:visceral manifestations are less apparent
    n1=en:incidence of 1 in 250,000 births | n2=en:visceral manifestations are less apparent | rel=r_associated | relid=0 | w=42
  98. en:incidence of 1 in 250,000 births -- r_associated #0: 42 / 0.977 -> en:wide clinical variability
    n1=en:incidence of 1 in 250,000 births | n2=en:wide clinical variability | rel=r_associated | relid=0 | w=42
  99. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:a subset of patients have heterozygous mutations, which may predispose to disease development
    n1=en:incidence of 1 in 250,000 births | n2=en:a subset of patients have heterozygous mutations, which may predispose to disease development | rel=r_associated | relid=0 | w=41
  100. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:affected infants appear normal
    n1=en:incidence of 1 in 250,000 births | n2=en:affected infants appear normal | rel=r_associated | relid=0 | w=41
  101. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:affected patients have various combinations of the main clinical features
    n1=en:incidence of 1 in 250,000 births | n2=en:affected patients have various combinations of the main clinical features | rel=r_associated | relid=0 | w=41
  102. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:bone abnormalities improve with age
    n1=en:incidence of 1 in 250,000 births | n2=en:bone abnormalities improve with age | rel=r_associated | relid=0 | w=41
  103. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:both heterozygous and homozygous pax3 mutations have been found
    n1=en:incidence of 1 in 250,000 births | n2=en:both heterozygous and homozygous pax3 mutations have been found | rel=r_associated | relid=0 | w=41
  104. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:death by age 3 years
    n1=en:incidence of 1 in 250,000 births | n2=en:death by age 3 years | rel=r_associated | relid=0 | w=41
  105. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:death often by age 2 years
    n1=en:incidence of 1 in 250,000 births | n2=en:death often by age 2 years | rel=r_associated | relid=0 | w=41
  106. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:death usually occurs in first decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:death usually occurs in first decade of life | rel=r_associated | relid=0 | w=41
  107. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:dermatitis resolves in offspring after zinc supplementation and/or weaning
    n1=en:incidence of 1 in 250,000 births | n2=en:dermatitis resolves in offspring after zinc supplementation and/or weaning | rel=r_associated | relid=0 | w=41
  108. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:described in one 5-generation pakistani family (last curated april 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:described in one 5-generation pakistani family (last curated april 2013) | rel=r_associated | relid=0 | w=41
  109. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:diabetes status:prid:pt:^patient:nom
    n1=en:incidence of 1 in 250,000 births | n2=en:diabetes status:prid:pt:^patient:nom | rel=r_associated | relid=0 | w=41
  110. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:diagnosis typically between age 10-20 years
    n1=en:incidence of 1 in 250,000 births | n2=en:diagnosis typically between age 10-20 years | rel=r_associated | relid=0 | w=41
  111. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> 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:incidence of 1 in 250,000 births | 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=41
  112. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:four patients from 2 unrelated families have been reported (last curated april 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:four patients from 2 unrelated families have been reported (last curated april 2013) | rel=r_associated | relid=0 | w=41
  113. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:frequent new mutations (~60%) and/or gonadal mosaicism in tsc2
    n1=en:incidence of 1 in 250,000 births | n2=en:frequent new mutations (~60%) and/or gonadal mosaicism in tsc2 | rel=r_associated | relid=0 | w=41
  114. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:genetic heterogeneity (see 161400)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see 161400) | rel=r_associated | relid=0 | w=41
  115. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:genetic heterogeneity (see psnp1 601104)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see psnp1 601104) | rel=r_associated | relid=0 | w=41
  116. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930) | rel=r_associated | relid=0 | w=41
  117. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:hearing loss is pre- or perilingual in onset
    n1=en:incidence of 1 in 250,000 births | n2=en:hearing loss is pre- or perilingual in onset | rel=r_associated | relid=0 | w=41
  118. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern | rel=r_associated | relid=0 | w=41
  119. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104)
    n1=en:incidence of 1 in 250,000 births | n2=en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) | rel=r_associated | relid=0 | w=41
  120. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:incidence of 1 in 40,000 infants worldwide
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 40,000 infants worldwide | rel=r_associated | relid=0 | w=41
  121. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:increased sensitivity to valproic acid toxicity
    n1=en:incidence of 1 in 250,000 births | n2=en:increased sensitivity to valproic acid toxicity | rel=r_associated | relid=0 | w=41
  122. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:length of time post dose:time:point in time:^patient:quantitative
    n1=en:incidence of 1 in 250,000 births | n2=en:length of time post dose:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=41
  123. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:males are more severely affected
    n1=en:incidence of 1 in 250,000 births | n2=en:males are more severely affected | rel=r_associated | relid=0 | w=41
  124. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:middle age onset
    n1=en:incidence of 1 in 250,000 births | n2=en:middle age onset | rel=r_associated | relid=0 | w=41
  125. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:milder cases have onset in childhood or adulthood with history of muscle weakness since infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:milder cases have onset in childhood or adulthood with history of muscle weakness since infancy | rel=r_associated | relid=0 | w=41
  126. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:more common in men (9:1 male:female ratio)
    n1=en:incidence of 1 in 250,000 births | n2=en:more common in men (9:1 male:female ratio) | rel=r_associated | relid=0 | w=41
  127. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:most remit by 6 weeks (1-6 months)
    n1=en:incidence of 1 in 250,000 births | n2=en:most remit by 6 weeks (1-6 months) | rel=r_associated | relid=0 | w=41
  128. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:new skin lesions stop appearing before adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:new skin lesions stop appearing before adolescence | rel=r_associated | relid=0 | w=41
  129. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland)
    n1=en:incidence of 1 in 250,000 births | n2=en:occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland) | rel=r_associated | relid=0 | w=41
  130. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:one canadian mennonite family has been reported (last curated november 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one canadian mennonite family has been reported (last curated november 2012) | rel=r_associated | relid=0 | w=41
  131. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:onset between age 2 and 15 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between age 2 and 15 years | rel=r_associated | relid=0 | w=41
  132. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:onset in the 3rd decade of life or later
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in the 3rd decade of life or later | rel=r_associated | relid=0 | w=41
  133. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:onset of ataxia and neuropathy in early twenties
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of ataxia and neuropathy in early twenties | rel=r_associated | relid=0 | w=41
  134. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:onset often begins in childhood or adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:onset often begins in childhood or adolescence | rel=r_associated | relid=0 | w=41
  135. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:onset usually by age 2 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually by age 2 years | rel=r_associated | relid=0 | w=41
  136. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:onset usually in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in infancy | rel=r_associated | relid=0 | w=41
  137. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:patients may show both optic neuropathy and dystonia or only 1 disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:patients may show both optic neuropathy and dystonia or only 1 disorder | rel=r_associated | relid=0 | w=41
  138. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:patients with a more severe phenotype have been reported with mutations in more than 1 lqts-related gene
    n1=en:incidence of 1 in 250,000 births | 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=41
  139. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:pectus carinatum present in obligate carrier mothers
    n1=en:incidence of 1 in 250,000 births | n2=en:pectus carinatum present in obligate carrier mothers | rel=r_associated | relid=0 | w=41
  140. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:phenotypic overlap with charcot-marie-tooth disease 2b (cmt2b, 600882)
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic overlap with charcot-marie-tooth disease 2b (cmt2b, 600882) | rel=r_associated | relid=0 | w=41
  141. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:prevalence of 1 in 28,000 african-americans
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 1 in 28,000 african-americans | rel=r_associated | relid=0 | w=41
  142. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats)
    n1=en:incidence of 1 in 250,000 births | n2=en:repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats) | rel=r_associated | relid=0 | w=41
  143. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:six patients reported (last curated march 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:six patients reported (last curated march 2015) | rel=r_associated | relid=0 | w=41
  144. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:skin peeling exacerbated by heat, friction, and humidity
    n1=en:incidence of 1 in 250,000 births | n2=en:skin peeling exacerbated by heat, friction, and humidity | rel=r_associated | relid=0 | w=41
  145. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:stillborn or lethal in the neonatal period
    n1=en:incidence of 1 in 250,000 births | n2=en:stillborn or lethal in the neonatal period | rel=r_associated | relid=0 | w=41
  146. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger | rel=r_associated | relid=0 | w=41
  147. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:three unrelated patients have been reported (last curated september 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:three unrelated patients have been reported (last curated september 2013) | rel=r_associated | relid=0 | w=41
  148. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:two consanguineous turkish families have been reported (as of august 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:two consanguineous turkish families have been reported (as of august 2011) | rel=r_associated | relid=0 | w=41
  149. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:two unrelated patients have been reported (last curated december 2010)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients have been reported (last curated december 2010) | rel=r_associated | relid=0 | w=41
  150. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:variable expressivity within a family
    n1=en:incidence of 1 in 250,000 births | n2=en:variable expressivity within a family | rel=r_associated | relid=0 | w=41
  151. en:incidence of 1 in 250,000 births -- r_associated #0: 41 / 0.953 -> en:visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin
    n1=en:incidence of 1 in 250,000 births | n2=en:visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin | rel=r_associated | relid=0 | w=41
  152. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:70% due to de novo maternal deletion of 15q11.2-q13
    n1=en:incidence of 1 in 250,000 births | n2=en:70% due to de novo maternal deletion of 15q11.2-q13 | rel=r_associated | relid=0 | w=40
  153. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:about 50% of mutation carriers are asymptomatic
    n1=en:incidence of 1 in 250,000 births | n2=en:about 50% of mutation carriers are asymptomatic | rel=r_associated | relid=0 | w=40
  154. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:adult onset (mean 30 years, range 5-60 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (mean 30 years, range 5-60 years) | rel=r_associated | relid=0 | w=40
  155. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:adult onset form usually presents with psychiatric manifestations
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset form usually presents with psychiatric manifestations | rel=r_associated | relid=0 | w=40
  156. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:age at onset in males ranges from 3 to 7 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age at onset in males ranges from 3 to 7 years | rel=r_associated | relid=0 | w=40
  157. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, 601847)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, 601847) | rel=r_associated | relid=0 | w=40
  158. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> 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:incidence of 1 in 250,000 births | 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=40
  159. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:associated with increased paternal age
    n1=en:incidence of 1 in 250,000 births | n2=en:associated with increased paternal age | rel=r_associated | relid=0 | w=40
  160. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:based on report of 1 consanguineous kurdish family with 4 affected sisters (last curated october 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on report of 1 consanguineous kurdish family with 4 affected sisters (last curated october 2014) | rel=r_associated | relid=0 | w=40
  161. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:considered a benign disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:considered a benign disorder | rel=r_associated | relid=0 | w=40
  162. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:distinctive and stereotyped sequence of events
    n1=en:incidence of 1 in 250,000 births | n2=en:distinctive and stereotyped sequence of events | rel=r_associated | relid=0 | w=40
  163. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:diurnal fluctuation of neurologic symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:diurnal fluctuation of neurologic symptoms | rel=r_associated | relid=0 | w=40
  164. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:four individual patients and 1 saudi family have been reported (as of february 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:four individual patients and 1 saudi family have been reported (as of february 2012) | rel=r_associated | relid=0 | w=40
  165. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:genetic heterogeneity (autosomal recessive form 224900 and autosomal dominant form 129490)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (autosomal recessive form 224900 and autosomal dominant form 129490) | rel=r_associated | relid=0 | w=40
  166. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:genetic heterogeneity (see jbts1 213300, jbts2 608091, jbts3 608629)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see jbts1 213300, jbts2 608091, jbts3 608629) | rel=r_associated | relid=0 | w=40
  167. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:genetic heterogeneity (see ofc1, 119530)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see ofc1, 119530) | rel=r_associated | relid=0 | w=40
  168. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:genetic heterogeneity (x-linked form 305100)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (x-linked form 305100) | rel=r_associated | relid=0 | w=40
  169. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:highly variable phenotype, ranging from neonatal encephalopathy to mild mental retardation with autistic features
    n1=en:incidence of 1 in 250,000 births | n2=en:highly variable phenotype, ranging from neonatal encephalopathy to mild mental retardation with autistic features | rel=r_associated | relid=0 | w=40
  170. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:infantile form accounts for 90% of cases
    n1=en:incidence of 1 in 250,000 births | n2=en:infantile form accounts for 90% of cases | rel=r_associated | relid=0 | w=40
  171. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:later onset may occur
    n1=en:incidence of 1 in 250,000 births | n2=en:later onset may occur | rel=r_associated | relid=0 | w=40
  172. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:may progress to upper limbs
    n1=en:incidence of 1 in 250,000 births | n2=en:may progress to upper limbs | rel=r_associated | relid=0 | w=40
  173. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:mean age of onset 16 to 19 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age of onset 16 to 19 years | rel=r_associated | relid=0 | w=40
  174. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:mean age of onset 35-40 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age of onset 35-40 years | rel=r_associated | relid=0 | w=40
  175. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:most common form of childhood idiopathic epilepsy
    n1=en:incidence of 1 in 250,000 births | n2=en:most common form of childhood idiopathic epilepsy | rel=r_associated | relid=0 | w=40
  176. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:most patients die from heart failure
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients die from heart failure | rel=r_associated | relid=0 | w=40
  177. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:occasional adult onset
    n1=en:incidence of 1 in 250,000 births | n2=en:occasional adult onset | rel=r_associated | relid=0 | w=40
  178. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:often reared as females until puberty
    n1=en:incidence of 1 in 250,000 births | n2=en:often reared as females until puberty | rel=r_associated | relid=0 | w=40
  179. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:onset in fourth decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in fourth decade | rel=r_associated | relid=0 | w=40
  180. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:onset in infancy (first hours to weeks of life)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in infancy (first hours to weeks of life) | rel=r_associated | relid=0 | w=40
  181. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:onset of proteinuria in the second to fourth decades
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of proteinuria in the second to fourth decades | rel=r_associated | relid=0 | w=40
  182. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:onset ranges from childhood to young adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset ranges from childhood to young adulthood | rel=r_associated | relid=0 | w=40
  183. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:pain tends to occur later in the day
    n1=en:incidence of 1 in 250,000 births | n2=en:pain tends to occur later in the day | rel=r_associated | relid=0 | w=40
  184. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia
    n1=en:incidence of 1 in 250,000 births | n2=en:presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia | rel=r_associated | relid=0 | w=40
  185. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:prevalence much higher in whites than blacks
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence much higher in whites than blacks | rel=r_associated | relid=0 | w=40
  186. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:progressive or slowly progressive
    n1=en:incidence of 1 in 250,000 births | n2=en:progressive or slowly progressive | rel=r_associated | relid=0 | w=40
  187. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:rarely, patients may be asymptomatic
    n1=en:incidence of 1 in 250,000 births | n2=en:rarely, patients may be asymptomatic | rel=r_associated | relid=0 | w=40
  188. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:see also optic atrophy with deafness (125250), an allelic disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:see also optic atrophy with deafness (125250), an allelic disorder | rel=r_associated | relid=0 | w=40
  189. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:seizures are poorly responsive to treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures are poorly responsive to treatment | rel=r_associated | relid=0 | w=40
  190. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:service comment 53:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=40
  191. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:service comment 71:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=40
  192. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:temperature instability
    n1=en:incidence of 1 in 250,000 births | n2=en:temperature instability | rel=r_associated | relid=0 | w=40
  193. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:two subtypes, episodic (85% of patients) and chronic (15%)
    n1=en:incidence of 1 in 250,000 births | n2=en:two subtypes, episodic (85% of patients) and chronic (15%) | rel=r_associated | relid=0 | w=40
  194. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:two unrelated families have been reported (last curated october 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated families have been reported (last curated october 2014) | rel=r_associated | relid=0 | w=40
  195. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:variable clinical severity
    n1=en:incidence of 1 in 250,000 births | n2=en:variable clinical severity | rel=r_associated | relid=0 | w=40
  196. en:incidence of 1 in 250,000 births -- r_associated #0: 40 / 0.93 -> en:variable severity, intrafamilial
    n1=en:incidence of 1 in 250,000 births | n2=en:variable severity, intrafamilial | rel=r_associated | relid=0 | w=40
  197. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:'variant' form of x-linked cgd retains residual cytochrome b(-245)
    n1=en:incidence of 1 in 250,000 births | n2=en:'variant' form of x-linked cgd retains residual cytochrome b(-245) | rel=r_associated | relid=0 | w=39
  198. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:absence of premature birth, low birthweight, and exposure to oxygen
    n1=en:incidence of 1 in 250,000 births | n2=en:absence of premature birth, low birthweight, and exposure to oxygen | rel=r_associated | relid=0 | w=39
  199. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:adults may lose ability to walk
    n1=en:incidence of 1 in 250,000 births | n2=en:adults may lose ability to walk | rel=r_associated | relid=0 | w=39
  200. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:age at onset ranges from childhood to adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:age at onset ranges from childhood to adulthood | rel=r_associated | relid=0 | w=39
  201. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:allelic disorder to potassium-aggravated myotonia (608390)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to potassium-aggravated myotonia (608390) | rel=r_associated | relid=0 | w=39
  202. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:based on 1 reported family with oca6
    n1=en:incidence of 1 in 250,000 births | n2=en:based on 1 reported family with oca6 | rel=r_associated | relid=0 | w=39
  203. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:based on report of 1 3-generation family (last curated november 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on report of 1 3-generation family (last curated november 2014) | rel=r_associated | relid=0 | w=39
  204. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:carrier females are normal
    n1=en:incidence of 1 in 250,000 births | n2=en:carrier females are normal | rel=r_associated | relid=0 | w=39
  205. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> 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:incidence of 1 in 250,000 births | 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=39
  206. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:death usually occurs in the first weeks to months of life
    n1=en:incidence of 1 in 250,000 births | n2=en:death usually occurs in the first weeks to months of life | rel=r_associated | relid=0 | w=39
  207. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:duane anomaly is not always present
    n1=en:incidence of 1 in 250,000 births | n2=en:duane anomaly is not always present | rel=r_associated | relid=0 | w=39
  208. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:eight unrelated patients have been reported (as of september 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:eight unrelated patients have been reported (as of september 2011) | rel=r_associated | relid=0 | w=39
  209. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:episodic decompensation is usually triggered by illness
    n1=en:incidence of 1 in 250,000 births | n2=en:episodic decompensation is usually triggered by illness | rel=r_associated | relid=0 | w=39
  210. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:genetic heterogeneity (see cmt2a 118210)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see cmt2a 118210) | rel=r_associated | relid=0 | w=39
  211. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:genetic heterogeneity (see psnp2 609454)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see psnp2 609454) | rel=r_associated | relid=0 | w=39
  212. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level
    n1=en:incidence of 1 in 250,000 births | n2=en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level | rel=r_associated | relid=0 | w=39
  213. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:inflammatory arthritis may develop in 30% of patients
    n1=en:incidence of 1 in 250,000 births | n2=en:inflammatory arthritis may develop in 30% of patients | rel=r_associated | relid=0 | w=39
  214. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:limb reduction defects typically involve the distal phalanges or entire digit, with rare involvement of more proximal limb structures
    n1=en:incidence of 1 in 250,000 births | 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=39
  215. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:majority of affected individuals are female (85%)
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of affected individuals are female (85%) | rel=r_associated | relid=0 | w=39
  216. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:midline defects
    n1=en:incidence of 1 in 250,000 births | n2=en:midline defects | rel=r_associated | relid=0 | w=39
  217. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:mild cases show clinical, biochemical, and mri improvement after the second year of life
    n1=en:incidence of 1 in 250,000 births | n2=en:mild cases show clinical, biochemical, and mri improvement after the second year of life | rel=r_associated | relid=0 | w=39
  218. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:most common form of bowel obstruction in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:most common form of bowel obstruction in infancy | rel=r_associated | relid=0 | w=39
  219. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:most individuals are asymptomatic
    n1=en:incidence of 1 in 250,000 births | n2=en:most individuals are asymptomatic | rel=r_associated | relid=0 | w=39
  220. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:most patients become wheelchair-bound after 20 to 30 years
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients become wheelchair-bound after 20 to 30 years | rel=r_associated | relid=0 | w=39
  221. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:observed in individuals of bulgarian roma bowlmaker ethnic group
    n1=en:incidence of 1 in 250,000 births | n2=en:observed in individuals of bulgarian roma bowlmaker ethnic group | rel=r_associated | relid=0 | w=39
  222. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:one family reported (last curated june 2009)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family reported (last curated june 2009) | rel=r_associated | relid=0 | w=39
  223. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013)
    n1=en:incidence of 1 in 250,000 births | 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=39
  224. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:one patient with a point mutation in the zbtb18 gene has been reported (last curated november 2013)
    n1=en:incidence of 1 in 250,000 births | 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=39
  225. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:onset at 4 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset at 4 years of age | rel=r_associated | relid=0 | w=39
  226. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:onset between 12 and 30 years (average 22)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between 12 and 30 years (average 22) | rel=r_associated | relid=0 | w=39
  227. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:onset in childhood or adolescence (median age of 9 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood or adolescence (median age of 9 years) | rel=r_associated | relid=0 | w=39
  228. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:onset in infancy or early childhood (birth to 6 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in infancy or early childhood (birth to 6 years) | rel=r_associated | relid=0 | w=39
  229. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:onset in mid-adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in mid-adulthood | rel=r_associated | relid=0 | w=39
  230. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:onset of symptoms age 5-30
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of symptoms age 5-30 | rel=r_associated | relid=0 | w=39
  231. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:possible gonadal mosaicism in one report
    n1=en:incidence of 1 in 250,000 births | n2=en:possible gonadal mosaicism in one report | rel=r_associated | relid=0 | w=39
  232. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:prenatal or perinatal death
    n1=en:incidence of 1 in 250,000 births | n2=en:prenatal or perinatal death | rel=r_associated | relid=0 | w=39
  233. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:provoked by crying or emotional upset
    n1=en:incidence of 1 in 250,000 births | n2=en:provoked by crying or emotional upset | rel=r_associated | relid=0 | w=39
  234. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:rapidly progressive episodes
    n1=en:incidence of 1 in 250,000 births | n2=en:rapidly progressive episodes | rel=r_associated | relid=0 | w=39
  235. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:reduced penetrance (approximately 54%)
    n1=en:incidence of 1 in 250,000 births | n2=en:reduced penetrance (approximately 54%) | rel=r_associated | relid=0 | w=39
  236. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:retinal degeneration not always present
    n1=en:incidence of 1 in 250,000 births | n2=en:retinal degeneration not always present | rel=r_associated | relid=0 | w=39
  237. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:see 608358 for an autosomal dominant form
    n1=en:incidence of 1 in 250,000 births | n2=en:see 608358 for an autosomal dominant form | rel=r_associated | relid=0 | w=39
  238. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:see also a childhood-onset form (114100)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also a childhood-onset form (114100) | rel=r_associated | relid=0 | w=39
  239. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:similar clinical phenotype to edsiii (130020)
    n1=en:incidence of 1 in 250,000 births | n2=en:similar clinical phenotype to edsiii (130020) | rel=r_associated | relid=0 | w=39
  240. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:three forms of cjd: acquired (including variant), sporadic, and inherited
    n1=en:incidence of 1 in 250,000 births | n2=en:three forms of cjd: acquired (including variant), sporadic, and inherited | rel=r_associated | relid=0 | w=39
  241. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:usually begins in feet and legs (peroneal distribution), but may progress to upper limbs
    n1=en:incidence of 1 in 250,000 births | n2=en:usually begins in feet and legs (peroneal distribution), but may progress to upper limbs | rel=r_associated | relid=0 | w=39
  242. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:variably severity
    n1=en:incidence of 1 in 250,000 births | n2=en:variably severity | rel=r_associated | relid=0 | w=39
  243. en:incidence of 1 in 250,000 births -- r_associated #0: 39 / 0.907 -> en:worsening of hand weakness with cold (in some)
    n1=en:incidence of 1 in 250,000 births | n2=en:worsening of hand weakness with cold (in some) | rel=r_associated | relid=0 | w=39
  244. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:14% of patients survive with polyhydramnios
    n1=en:incidence of 1 in 250,000 births | n2=en:14% of patients survive with polyhydramnios | rel=r_associated | relid=0 | w=38
  245. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:adult onset (40 to 60 years old)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (40 to 60 years old) | rel=r_associated | relid=0 | w=38
  246. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:age at onset ranges from 16 years to 65 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age at onset ranges from 16 years to 65 years | rel=r_associated | relid=0 | w=38
  247. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:anemia may show onset in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:anemia may show onset in infancy | rel=r_associated | relid=0 | w=38
  248. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:as of 4/2011, 2 patients have been described in detail
    n1=en:incidence of 1 in 250,000 births | n2=en:as of 4/2011, 2 patients have been described in detail | rel=r_associated | relid=0 | w=38
  249. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:associated with several congenital malformation syndromes (wagr 194072, beckwith-wiedemann syndrome 130650, abnormal urogenital development syndromes)
    n1=en:incidence of 1 in 250,000 births | n2=en:associated with several congenital malformation syndromes (wagr 194072, beckwith-wiedemann syndrome 130650, abnormal urogenital development syndromes) | rel=r_associated | relid=0 | w=38
  250. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:can be effectively treated with n-carbamylglutamate
    n1=en:incidence of 1 in 250,000 births | n2=en:can be effectively treated with n-carbamylglutamate | rel=r_associated | relid=0 | w=38
  251. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:childhood onset (range birth to 12 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:childhood onset (range birth to 12 years) | rel=r_associated | relid=0 | w=38
  252. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:clinical and biochemical abnormalities improve with age
    n1=en:incidence of 1 in 250,000 births | n2=en:clinical and biochemical abnormalities improve with age | rel=r_associated | relid=0 | w=38
  253. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:complete recovery upon treatment of hyperthyroidism
    n1=en:incidence of 1 in 250,000 births | n2=en:complete recovery upon treatment of hyperthyroidism | rel=r_associated | relid=0 | w=38
  254. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:comprises several subtypes, including
    n1=en:incidence of 1 in 250,000 births | n2=en:comprises several subtypes, including | rel=r_associated | relid=0 | w=38
  255. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures
    n1=en:incidence of 1 in 250,000 births | n2=en:distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures | rel=r_associated | relid=0 | w=38
  256. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:favorable response to hydroxychloroquine treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to hydroxychloroquine treatment | rel=r_associated | relid=0 | w=38
  257. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:genetic heterogeneity (see antenatal bartter syndrome type 1, 601678)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see antenatal bartter syndrome type 1, 601678) | rel=r_associated | relid=0 | w=38
  258. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:germline and somatic mutations contribute to this disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:germline and somatic mutations contribute to this disorder | rel=r_associated | relid=0 | w=38
  259. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:gradual progression
    n1=en:incidence of 1 in 250,000 births | n2=en:gradual progression | rel=r_associated | relid=0 | w=38
  260. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:high prevalence among individuals of middle eastern or african descent
    n1=en:incidence of 1 in 250,000 births | n2=en:high prevalence among individuals of middle eastern or african descent | rel=r_associated | relid=0 | w=38
  261. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:homozygous patients have earlier-onset and more severe disease
    n1=en:incidence of 1 in 250,000 births | n2=en:homozygous patients have earlier-onset and more severe disease | rel=r_associated | relid=0 | w=38
  262. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:increased risk of miscarriage
    n1=en:incidence of 1 in 250,000 births | n2=en:increased risk of miscarriage | rel=r_associated | relid=0 | w=38
  263. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:increased susceptibility to infections
    n1=en:incidence of 1 in 250,000 births | n2=en:increased susceptibility to infections | rel=r_associated | relid=0 | w=38
  264. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:infantile onset with hepatic involvement
    n1=en:incidence of 1 in 250,000 births | n2=en:infantile onset with hepatic involvement | rel=r_associated | relid=0 | w=38
  265. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:leg pain
    n1=en:incidence of 1 in 250,000 births | n2=en:leg pain | rel=r_associated | relid=0 | w=38
  266. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:loss of independent ambulation due to muscle weakness in adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:loss of independent ambulation due to muscle weakness in adulthood | rel=r_associated | relid=0 | w=38
  267. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:most common inherited bleeding disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:most common inherited bleeding disorder | rel=r_associated | relid=0 | w=38
  268. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:no chronic or permanent liver damage
    n1=en:incidence of 1 in 250,000 births | n2=en:no chronic or permanent liver damage | rel=r_associated | relid=0 | w=38
  269. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:often fatal due in infancy due to intractable diarrhea
    n1=en:incidence of 1 in 250,000 births | n2=en:often fatal due in infancy due to intractable diarrhea | rel=r_associated | relid=0 | w=38
  270. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:one consanguineous pakistani family has been reported (last curated november 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one consanguineous pakistani family has been reported (last curated november 2014) | rel=r_associated | relid=0 | w=38
  271. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:onset age 15-25 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset age 15-25 years | rel=r_associated | relid=0 | w=38
  272. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:onset at age 36 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset at age 36 years | rel=r_associated | relid=0 | w=38
  273. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:onset in first decade (birth to age 5 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in first decade (birth to age 5 years) | rel=r_associated | relid=0 | w=38
  274. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:onset in infancy after normal birth and neonatal period
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in infancy after normal birth and neonatal period | rel=r_associated | relid=0 | w=38
  275. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:onset in infancy and early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in infancy and early childhood | rel=r_associated | relid=0 | w=38
  276. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:onset usually in infancy or up to 2 years of age although later onset has been reported ('late-infantile')
    n1=en:incidence of 1 in 250,000 births | 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=38
  277. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:phenotypic overlap with desbuquois dysplasia (251450)
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic overlap with desbuquois dysplasia (251450) | rel=r_associated | relid=0 | w=38
  278. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:present in jewish yemenite population
    n1=en:incidence of 1 in 250,000 births | n2=en:present in jewish yemenite population | rel=r_associated | relid=0 | w=38
  279. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:rapidly progressive to persistent vegetative state or death
    n1=en:incidence of 1 in 250,000 births | n2=en:rapidly progressive to persistent vegetative state or death | rel=r_associated | relid=0 | w=38
  280. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:see also crigler-najjar syndrome type i (218800) which is also due to mutations in ugt1 (191740)
    n1=en:incidence of 1 in 250,000 births | 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=38
  281. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:see also the autosomal recessive form (243000)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also the autosomal recessive form (243000) | rel=r_associated | relid=0 | w=38
  282. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:service comment 20:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=38
  283. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:some features may be variable
    n1=en:incidence of 1 in 250,000 births | n2=en:some features may be variable | rel=r_associated | relid=0 | w=38
  284. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:symptoms progress with worsening myopathy
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms progress with worsening myopathy | rel=r_associated | relid=0 | w=38
  285. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:two unrelated girls reported (last curated october 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated girls reported (last curated october 2013) | rel=r_associated | relid=0 | w=38
  286. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:type iii is intermediate form
    n1=en:incidence of 1 in 250,000 births | n2=en:type iii is intermediate form | rel=r_associated | relid=0 | w=38
  287. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:variable age at onset (range 8 to 60 years, mean 32)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (range 8 to 60 years, mean 32) | rel=r_associated | relid=0 | w=38
  288. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:variable age of onset
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age of onset | rel=r_associated | relid=0 | w=38
  289. en:incidence of 1 in 250,000 births -- r_associated #0: 38 / 0.884 -> en:variable expressivity, some patients may be clinically asymptomatic
    n1=en:incidence of 1 in 250,000 births | n2=en:variable expressivity, some patients may be clinically asymptomatic | rel=r_associated | relid=0 | w=38
  290. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:affected males are infertile, whereas affected females have recurrent pregnancy loss
    n1=en:incidence of 1 in 250,000 births | n2=en:affected males are infertile, whereas affected females have recurrent pregnancy loss | rel=r_associated | relid=0 | w=37
  291. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:affected males are somatic mosaic for mutations
    n1=en:incidence of 1 in 250,000 births | n2=en:affected males are somatic mosaic for mutations | rel=r_associated | relid=0 | w=37
  292. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:all cases have been sporadic
    n1=en:incidence of 1 in 250,000 births | n2=en:all cases have been sporadic | rel=r_associated | relid=0 | w=37
  293. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:allelic disorder to autosomal recessive charcot-marie-tooth disease type 4c (601596)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to autosomal recessive charcot-marie-tooth disease type 4c (601596) | rel=r_associated | relid=0 | w=37
  294. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:allelic disorder to northern epilepsy (610003)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to northern epilepsy (610003) | rel=r_associated | relid=0 | w=37
  295. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:allelic disorder to primary erythermalgia (133020)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to primary erythermalgia (133020) | rel=r_associated | relid=0 | w=37
  296. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:allelic to brachydactyly, type a1 (112500)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to brachydactyly, type a1 (112500) | rel=r_associated | relid=0 | w=37
  297. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:allelic to eec3 (604292), shfm4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and adult syndrome (103285)
    n1=en:incidence of 1 in 250,000 births | 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=37
  298. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:allelic to leopard syndrome (151100)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to leopard syndrome (151100) | rel=r_associated | relid=0 | w=37
  299. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:allelic to pseudoachondroplasia (177170)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to pseudoachondroplasia (177170) | rel=r_associated | relid=0 | w=37
  300. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:apparent in newborn at birth
    n1=en:incidence of 1 in 250,000 births | n2=en:apparent in newborn at birth | rel=r_associated | relid=0 | w=37
  301. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:bilateral involvement in 10% of cases
    n1=en:incidence of 1 in 250,000 births | n2=en:bilateral involvement in 10% of cases | rel=r_associated | relid=0 | w=37
  302. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia
    n1=en:incidence of 1 in 250,000 births | n2=en:both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia | rel=r_associated | relid=0 | w=37
  303. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:both germline (familial) and somatic (sporadic) mutation in kit (164920) and pdgfra (173490) have been found
    n1=en:incidence of 1 in 250,000 births | n2=en:both germline (familial) and somatic (sporadic) mutation in kit (164920) and pdgfra (173490) have been found | rel=r_associated | relid=0 | w=37
  304. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:brain mri abnormalities show improvement with time
    n1=en:incidence of 1 in 250,000 births | n2=en:brain mri abnormalities show improvement with time | rel=r_associated | relid=0 | w=37
  305. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:brainstem, cerebellum, internal and external capsule, inner rim of the corpus callosum may show disease involvement on mri
    n1=en:incidence of 1 in 250,000 births | 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=37
  306. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:cutaneous leiomyomas increase in number over time
    n1=en:incidence of 1 in 250,000 births | n2=en:cutaneous leiomyomas increase in number over time | rel=r_associated | relid=0 | w=37
  307. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:death by age 5 (infantile form)
    n1=en:incidence of 1 in 250,000 births | n2=en:death by age 5 (infantile form) | rel=r_associated | relid=0 | w=37
  308. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:death in early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:death in early childhood | rel=r_associated | relid=0 | w=37
  309. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:death in infancy common for patients with the classic neonatal form
    n1=en:incidence of 1 in 250,000 births | n2=en:death in infancy common for patients with the classic neonatal form | rel=r_associated | relid=0 | w=37
  310. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:death in infancy secondary to respiratory insufficiency/pneumonia
    n1=en:incidence of 1 in 250,000 births | n2=en:death in infancy secondary to respiratory insufficiency/pneumonia | rel=r_associated | relid=0 | w=37
  311. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:decreased fertility
    n1=en:incidence of 1 in 250,000 births | n2=en:decreased fertility | rel=r_associated | relid=0 | w=37
  312. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:disability by end of first decade
    n1=en:incidence of 1 in 250,000 births | n2=en:disability by end of first decade | rel=r_associated | relid=0 | w=37
  313. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:environmental triggers - cold and wet exposure
    n1=en:incidence of 1 in 250,000 births | n2=en:environmental triggers - cold and wet exposure | rel=r_associated | relid=0 | w=37
  314. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:fractures often heal without deformity
    n1=en:incidence of 1 in 250,000 births | n2=en:fractures often heal without deformity | rel=r_associated | relid=0 | w=37
  315. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:frequency and severity of symptoms do not worsen with age
    n1=en:incidence of 1 in 250,000 births | n2=en:frequency and severity of symptoms do not worsen with age | rel=r_associated | relid=0 | w=37
  316. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:genetic anticipation
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic anticipation | rel=r_associated | relid=0 | w=37
  317. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:genetic heterogeneity
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity | rel=r_associated | relid=0 | w=37
  318. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:genetic heterogeneity (see 166600)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see 166600) | rel=r_associated | relid=0 | w=37
  319. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:genetic heterogeneity (see hcfp2, 604185)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see hcfp2, 604185) | rel=r_associated | relid=0 | w=37
  320. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:gonadal mosaicism may occur
    n1=en:incidence of 1 in 250,000 births | n2=en:gonadal mosaicism may occur | rel=r_associated | relid=0 | w=37
  321. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:highly variable severity
    n1=en:incidence of 1 in 250,000 births | n2=en:highly variable severity | rel=r_associated | relid=0 | w=37
  322. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:increased aneuploidy in offspring
    n1=en:incidence of 1 in 250,000 births | n2=en:increased aneuploidy in offspring | rel=r_associated | relid=0 | w=37
  323. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:increased frequency among japanese and chinese
    n1=en:incidence of 1 in 250,000 births | n2=en:increased frequency among japanese and chinese | rel=r_associated | relid=0 | w=37
  324. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:increased tendency to chromosomal nondisjunction
    n1=en:incidence of 1 in 250,000 births | n2=en:increased tendency to chromosomal nondisjunction | rel=r_associated | relid=0 | w=37
  325. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:individuals do not develop erythrocytosis under hypoxic conditions
    n1=en:incidence of 1 in 250,000 births | n2=en:individuals do not develop erythrocytosis under hypoxic conditions | rel=r_associated | relid=0 | w=37
  326. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:infantile, late-infantile, juvenile, and adult onset have been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:infantile, late-infantile, juvenile, and adult onset have been reported | rel=r_associated | relid=0 | w=37
  327. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:infants may have acute life-threatening crises
    n1=en:incidence of 1 in 250,000 births | n2=en:infants may have acute life-threatening crises | rel=r_associated | relid=0 | w=37
  328. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:initial development may appear normal
    n1=en:incidence of 1 in 250,000 births | n2=en:initial development may appear normal | rel=r_associated | relid=0 | w=37
  329. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:most carrier females have mild mental retardation and subtle facial changes
    n1=en:incidence of 1 in 250,000 births | n2=en:most carrier females have mild mental retardation and subtle facial changes | rel=r_associated | relid=0 | w=37
  330. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:natural aversion to carbohydrates and favoring of protein
    n1=en:incidence of 1 in 250,000 births | n2=en:natural aversion to carbohydrates and favoring of protein | rel=r_associated | relid=0 | w=37
  331. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:neonatal death
    n1=en:incidence of 1 in 250,000 births | n2=en:neonatal death | rel=r_associated | relid=0 | w=37
  332. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:one large family has been reported (last curated january 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:one large family has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=37
  333. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:one patient has been reported (as of march 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient has been reported (as of march 2011) | rel=r_associated | relid=0 | w=37
  334. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:onset in first decade (average 5 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in first decade (average 5 years) | rel=r_associated | relid=0 | w=37
  335. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:onset of spasticity by age 2 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of spasticity by age 2 years | rel=r_associated | relid=0 | w=37
  336. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity)
    n1=en:incidence of 1 in 250,000 births | n2=en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity) | rel=r_associated | relid=0 | w=37
  337. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:patients can have multiple seizure types
    n1=en:incidence of 1 in 250,000 births | n2=en:patients can have multiple seizure types | rel=r_associated | relid=0 | w=37
  338. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:patients may present with autoimmune features or primary immunodeficiency
    n1=en:incidence of 1 in 250,000 births | n2=en:patients may present with autoimmune features or primary immunodeficiency | rel=r_associated | relid=0 | w=37
  339. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:phenotypic similarities to angelman syndrome (105830)
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic similarities to angelman syndrome (105830) | rel=r_associated | relid=0 | w=37
  340. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:plantar contractures become apparent with onset of ambulation
    n1=en:incidence of 1 in 250,000 births | n2=en:plantar contractures become apparent with onset of ambulation | rel=r_associated | relid=0 | w=37
  341. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:polg mutations account for approximately 45% of all peo cases
    n1=en:incidence of 1 in 250,000 births | n2=en:polg mutations account for approximately 45% of all peo cases | rel=r_associated | relid=0 | w=37
  342. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:poor or no response to glucocorticoid treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:poor or no response to glucocorticoid treatment | rel=r_associated | relid=0 | w=37
  343. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:possible autosomal dominant (165199) and autosomal recessive (258650) forms
    n1=en:incidence of 1 in 250,000 births | n2=en:possible autosomal dominant (165199) and autosomal recessive (258650) forms | rel=r_associated | relid=0 | w=37
  344. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:prevalence in slovenia is 1 in 43,000
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence in slovenia is 1 in 43,000 | rel=r_associated | relid=0 | w=37
  345. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:responsive to oral mannose therapy
    n1=en:incidence of 1 in 250,000 births | n2=en:responsive to oral mannose therapy | rel=r_associated | relid=0 | w=37
  346. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:see also autosomal recessive sick sinus syndrome (sss1, 608567)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also autosomal recessive sick sinus syndrome (sss1, 608567) | rel=r_associated | relid=0 | w=37
  347. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:see also pfm3 on chromosome 4q21-q23 (609566)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also pfm3 on chromosome 4q21-q23 (609566) | rel=r_associated | relid=0 | w=37
  348. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:segmental distribution often affecting 1 limb
    n1=en:incidence of 1 in 250,000 births | n2=en:segmental distribution often affecting 1 limb | rel=r_associated | relid=0 | w=37
  349. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:seizures tend to become more focal with age
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures tend to become more focal with age | rel=r_associated | relid=0 | w=37
  350. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:two fetuses have been reported (as of august 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:two fetuses have been reported (as of august 2011) | rel=r_associated | relid=0 | w=37
  351. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles
    n1=en:incidence of 1 in 250,000 births | n2=en:type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles | rel=r_associated | relid=0 | w=37
  352. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:usually death in utero or rarely in neonatal period
    n1=en:incidence of 1 in 250,000 births | n2=en:usually death in utero or rarely in neonatal period | rel=r_associated | relid=0 | w=37
  353. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:usually poor response to steroid treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:usually poor response to steroid treatment | rel=r_associated | relid=0 | w=37
  354. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:variable age at onset (range 25 to 78 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (range 25 to 78 years) | rel=r_associated | relid=0 | w=37
  355. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:variable age at onset (range 6 to 54 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (range 6 to 54 years) | rel=r_associated | relid=0 | w=37
  356. en:incidence of 1 in 250,000 births -- r_associated #0: 37 / 0.86 -> en:women affected more than men (3:2)
    n1=en:incidence of 1 in 250,000 births | n2=en:women affected more than men (3:2) | rel=r_associated | relid=0 | w=37
  357. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:a severe infantile variant has been rarely reported
    n1=en:incidence of 1 in 250,000 births | n2=en:a severe infantile variant has been rarely reported | rel=r_associated | relid=0 | w=36
  358. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:all patients have severe hearing loss 10 to 15 years after onset
    n1=en:incidence of 1 in 250,000 births | n2=en:all patients have severe hearing loss 10 to 15 years after onset | rel=r_associated | relid=0 | w=36
  359. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:apparent at birth
    n1=en:incidence of 1 in 250,000 births | n2=en:apparent at birth | rel=r_associated | relid=0 | w=36
  360. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:average age at onset 38 years
    n1=en:incidence of 1 in 250,000 births | n2=en:average age at onset 38 years | rel=r_associated | relid=0 | w=36
  361. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:based on 2 reported patients (last curated january 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on 2 reported patients (last curated january 2013) | rel=r_associated | relid=0 | w=36
  362. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:caused by inheritance of the mutation on the paternal allele (imprinting)
    n1=en:incidence of 1 in 250,000 births | n2=en:caused by inheritance of the mutation on the paternal allele (imprinting) | rel=r_associated | relid=0 | w=36
  363. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:chands is an acronym for curly hair, ankyloblepharon filiform, nail dysplasia
    n1=en:incidence of 1 in 250,000 births | n2=en:chands is an acronym for curly hair, ankyloblepharon filiform, nail dysplasia | rel=r_associated | relid=0 | w=36
  364. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:clinically mimics congenital torch infections (see 251290)
    n1=en:incidence of 1 in 250,000 births | n2=en:clinically mimics congenital torch infections (see 251290) | rel=r_associated | relid=0 | w=36
  365. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:complement deficiency (e.g. c2 and c4 null alleles) are susceptible to developing sle
    n1=en:incidence of 1 in 250,000 births | n2=en:complement deficiency (e.g. c2 and c4 null alleles) are susceptible to developing sle | rel=r_associated | relid=0 | w=36
  366. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:death often in the teenage years
    n1=en:incidence of 1 in 250,000 births | n2=en:death often in the teenage years | rel=r_associated | relid=0 | w=36
  367. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:death often secondary to infectious disease
    n1=en:incidence of 1 in 250,000 births | n2=en:death often secondary to infectious disease | rel=r_associated | relid=0 | w=36
  368. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:early onset, between 35-60 years
    n1=en:incidence of 1 in 250,000 births | n2=en:early onset, between 35-60 years | rel=r_associated | relid=0 | w=36
  369. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:frequency 1/100,000 - 1/130,000 live births
    n1=en:incidence of 1 in 250,000 births | n2=en:frequency 1/100,000 - 1/130,000 live births | rel=r_associated | relid=0 | w=36
  370. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:genetic heterogeneity (see cnc2, 605244)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see cnc2, 605244) | rel=r_associated | relid=0 | w=36
  371. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:heterozygotes exhibit blue sclerae and soft velvety skin
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygotes exhibit blue sclerae and soft velvety skin | rel=r_associated | relid=0 | w=36
  372. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:hyperkeratosis triggered by chronic mechanical irritation
    n1=en:incidence of 1 in 250,000 births | n2=en:hyperkeratosis triggered by chronic mechanical irritation | rel=r_associated | relid=0 | w=36
  373. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:in contrast to other forms of progeria, these patients do not have atherosclerosis, cardiac ischemia, or metabolic abnormalities
    n1=en:incidence of 1 in 250,000 births | 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=36
  374. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:incidence of 1 in 100,000 births in caucasians
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 100,000 births in caucasians | rel=r_associated | relid=0 | w=36
  375. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:infants are stillborn or die before age 1
    n1=en:incidence of 1 in 250,000 births | n2=en:infants are stillborn or die before age 1 | rel=r_associated | relid=0 | w=36
  376. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:juvenile absence epilepsy (jae, 607631)
    n1=en:incidence of 1 in 250,000 births | n2=en:juvenile absence epilepsy (jae, 607631) | rel=r_associated | relid=0 | w=36
  377. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:male to female ratio 7:1
    n1=en:incidence of 1 in 250,000 births | n2=en:male to female ratio 7:1 | rel=r_associated | relid=0 | w=36
  378. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:may be progressive
    n1=en:incidence of 1 in 250,000 births | n2=en:may be progressive | rel=r_associated | relid=0 | w=36
  379. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:may result in death in neonatal period or early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:may result in death in neonatal period or early childhood | rel=r_associated | relid=0 | w=36
  380. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:mild expression in heterozygous carriers
    n1=en:incidence of 1 in 250,000 births | n2=en:mild expression in heterozygous carriers | rel=r_associated | relid=0 | w=36
  381. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:most affected infants die shortly after birth from respiratory failure
    n1=en:incidence of 1 in 250,000 births | n2=en:most affected infants die shortly after birth from respiratory failure | rel=r_associated | relid=0 | w=36
  382. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:most cases occur de novo
    n1=en:incidence of 1 in 250,000 births | n2=en:most cases occur de novo | rel=r_associated | relid=0 | w=36
  383. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:most common subtype of frontotemporal dementia (600274)
    n1=en:incidence of 1 in 250,000 births | n2=en:most common subtype of frontotemporal dementia (600274) | rel=r_associated | relid=0 | w=36
  384. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:most patients are stillborn or die in immediate neonatal period
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients are stillborn or die in immediate neonatal period | rel=r_associated | relid=0 | w=36
  385. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:one family reported (last curated november 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family reported (last curated november 2011) | rel=r_associated | relid=0 | w=36
  386. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:one italian family has been reported (last curated july 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one italian family has been reported (last curated july 2012) | rel=r_associated | relid=0 | w=36
  387. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:one large spanish family and 1 unrelated patient have been reported (last curated june 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one large spanish family and 1 unrelated patient have been reported (last curated june 2014) | rel=r_associated | relid=0 | w=36
  388. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:one likely consanguineous turkish family has been reported (last curated january 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:one likely consanguineous turkish family has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=36
  389. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:onset 1-12 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset 1-12 years | rel=r_associated | relid=0 | w=36
  390. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:onset around adolescence in males
    n1=en:incidence of 1 in 250,000 births | n2=en:onset around adolescence in males | rel=r_associated | relid=0 | w=36
  391. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:onset in childhood or teenage years (7 to 16 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood or teenage years (7 to 16 years) | rel=r_associated | relid=0 | w=36
  392. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:onset occurs earlier in males than females
    n1=en:incidence of 1 in 250,000 births | n2=en:onset occurs earlier in males than females | rel=r_associated | relid=0 | w=36
  393. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:onset of chronic progressive polyneuropathy in late childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of chronic progressive polyneuropathy in late childhood | rel=r_associated | relid=0 | w=36
  394. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:onset of cough in early adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of cough in early adulthood | rel=r_associated | relid=0 | w=36
  395. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:onset of spasticity in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of spasticity in childhood | rel=r_associated | relid=0 | w=36
  396. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:onset of tremor usually before onset of seizures
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of tremor usually before onset of seizures | rel=r_associated | relid=0 | w=36
  397. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:patients are prone to impaired thermoregulation
    n1=en:incidence of 1 in 250,000 births | n2=en:patients are prone to impaired thermoregulation | rel=r_associated | relid=0 | w=36
  398. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> 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:incidence of 1 in 250,000 births | 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=36
  399. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:patients younger than 30 years complain only that they cannot run fast
    n1=en:incidence of 1 in 250,000 births | n2=en:patients younger than 30 years complain only that they cannot run fast | rel=r_associated | relid=0 | w=36
  400. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:presentation after 18 months
    n1=en:incidence of 1 in 250,000 births | n2=en:presentation after 18 months | rel=r_associated | relid=0 | w=36
  401. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:presents at a later age than sporadic wilms tumor
    n1=en:incidence of 1 in 250,000 births | n2=en:presents at a later age than sporadic wilms tumor | rel=r_associated | relid=0 | w=36
  402. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:prevalence estimated at 1 in 86,000
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence estimated at 1 in 86,000 | rel=r_associated | relid=0 | w=36
  403. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:reference lab test number and name:identifier:time reported elsewhere:reference lab test:nominal
    n1=en:incidence of 1 in 250,000 births | n2=en:reference lab test number and name:identifier:time reported elsewhere:reference lab test:nominal | rel=r_associated | relid=0 | w=36
  404. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:some patients do not achieve independent ambulation
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients do not achieve independent ambulation | rel=r_associated | relid=0 | w=36
  405. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:some patients show improvement in muscle power in the teenage years
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients show improvement in muscle power in the teenage years | rel=r_associated | relid=0 | w=36
  406. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:subtle facial phenotype compared to other types of hpe
    n1=en:incidence of 1 in 250,000 births | n2=en:subtle facial phenotype compared to other types of hpe | rel=r_associated | relid=0 | w=36
  407. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:sudden death due to cardiomyopathy
    n1=en:incidence of 1 in 250,000 births | n2=en:sudden death due to cardiomyopathy | rel=r_associated | relid=0 | w=36
  408. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:teeth may undergo post-eruptive changes
    n1=en:incidence of 1 in 250,000 births | n2=en:teeth may undergo post-eruptive changes | rel=r_associated | relid=0 | w=36
  409. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection
    n1=en:incidence of 1 in 250,000 births | n2=en:triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection | rel=r_associated | relid=0 | w=36
  410. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:type 2cb is characterized by defective binding affinity for collagen types i and iii
    n1=en:incidence of 1 in 250,000 births | n2=en:type 2cb is characterized by defective binding affinity for collagen types i and iii | rel=r_associated | relid=0 | w=36
  411. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:type i is infantile-onset, severe
    n1=en:incidence of 1 in 250,000 births | n2=en:type i is infantile-onset, severe | rel=r_associated | relid=0 | w=36
  412. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:variable severity, some patients have a protracted course with little neurologic involvement
    n1=en:incidence of 1 in 250,000 births | n2=en:variable severity, some patients have a protracted course with little neurologic involvement | rel=r_associated | relid=0 | w=36
  413. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:vast majority of heterozygotes are asymptomatic
    n1=en:incidence of 1 in 250,000 births | n2=en:vast majority of heterozygotes are asymptomatic | rel=r_associated | relid=0 | w=36
  414. en:incidence of 1 in 250,000 births -- r_associated #0: 36 / 0.837 -> en:walking delay
    n1=en:incidence of 1 in 250,000 births | n2=en:walking delay | rel=r_associated | relid=0 | w=36
  415. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:(5) dihydrolipoyl dehydrogenase (e3)-deficient
    n1=en:incidence of 1 in 250,000 births | n2=en:(5) dihydrolipoyl dehydrogenase (e3)-deficient | rel=r_associated | relid=0 | w=35
  416. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:13% of cases secondary to familial translocation (often maternally derived)
    n1=en:incidence of 1 in 250,000 births | n2=en:13% of cases secondary to familial translocation (often maternally derived) | rel=r_associated | relid=0 | w=35
  417. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:2:1 female preponderance
    n1=en:incidence of 1 in 250,000 births | n2=en:2:1 female preponderance | rel=r_associated | relid=0 | w=35
  418. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:20% die before age one (usually secondary to renal or laryngeal defects)
    n1=en:incidence of 1 in 250,000 births | n2=en:20% die before age one (usually secondary to renal or laryngeal defects) | rel=r_associated | relid=0 | w=35
  419. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:50% of cases represent new mutations associated with advanced paternal age
    n1=en:incidence of 1 in 250,000 births | n2=en:50% of cases represent new mutations associated with advanced paternal age | rel=r_associated | relid=0 | w=35
  420. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:87% patients are female
    n1=en:incidence of 1 in 250,000 births | n2=en:87% patients are female | rel=r_associated | relid=0 | w=35
  421. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:a minority of patients have onset after age 30 years
    n1=en:incidence of 1 in 250,000 births | n2=en:a minority of patients have onset after age 30 years | rel=r_associated | relid=0 | w=35
  422. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:about 5% of patients have a history of febrile seizures
    n1=en:incidence of 1 in 250,000 births | n2=en:about 5% of patients have a history of febrile seizures | rel=r_associated | relid=0 | w=35
  423. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:acanthosis nigricans fades during adolescence and reappears in pregnancy
    n1=en:incidence of 1 in 250,000 births | n2=en:acanthosis nigricans fades during adolescence and reappears in pregnancy | rel=r_associated | relid=0 | w=35
  424. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:acute encephalopathic episodes may occur
    n1=en:incidence of 1 in 250,000 births | n2=en:acute encephalopathic episodes may occur | rel=r_associated | relid=0 | w=35
  425. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:adult onset (20 to 50 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (20 to 50 years) | rel=r_associated | relid=0 | w=35
  426. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:adult onset (third decade)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (third decade) | rel=r_associated | relid=0 | w=35
  427. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:adult onset of symptoms has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset of symptoms has been reported | rel=r_associated | relid=0 | w=35
  428. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:adult onset, usually 30's to 40's, but up to early 60's
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset, usually 30's to 40's, but up to early 60's | rel=r_associated | relid=0 | w=35
  429. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:affected females may have increased spontaneous abortions
    n1=en:incidence of 1 in 250,000 births | n2=en:affected females may have increased spontaneous abortions | rel=r_associated | relid=0 | w=35
  430. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:affected individuals may have learning or behavioral problems during the period when seizures occur
    n1=en:incidence of 1 in 250,000 births | n2=en:affected individuals may have learning or behavioral problems during the period when seizures occur | rel=r_associated | relid=0 | w=35
  431. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:affected infants die in neonatal period
    n1=en:incidence of 1 in 250,000 births | n2=en:affected infants die in neonatal period | rel=r_associated | relid=0 | w=35
  432. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:age at diagnosis 24 +/- 18 years for dominant disease
    n1=en:incidence of 1 in 250,000 births | n2=en:age at diagnosis 24 +/- 18 years for dominant disease | rel=r_associated | relid=0 | w=35
  433. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:age at diagnosis 9 +/- 6 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age at diagnosis 9 +/- 6 years | rel=r_associated | relid=0 | w=35
  434. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:age at onset can range from infancy to childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:age at onset can range from infancy to childhood | rel=r_associated | relid=0 | w=35
  435. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:age of onset - birth to 15 months
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset - birth to 15 months | rel=r_associated | relid=0 | w=35
  436. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:age of onset 1 to 2 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset 1 to 2 years | rel=r_associated | relid=0 | w=35
  437. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:age of onset 28 to 70 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset 28 to 70 years | rel=r_associated | relid=0 | w=35
  438. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:age of onset 5 to 22 years (mean 6.9)
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset 5 to 22 years (mean 6.9) | rel=r_associated | relid=0 | w=35
  439. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:age of onset ranges from neonate to adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset ranges from neonate to adulthood | rel=r_associated | relid=0 | w=35
  440. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:age of onset third decade
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset third decade | rel=r_associated | relid=0 | w=35
  441. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:age-dependent penetrance
    n1=en:incidence of 1 in 250,000 births | n2=en:age-dependent penetrance | rel=r_associated | relid=0 | w=35
  442. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:age:time:point in time:^patient:quantitative
    n1=en:incidence of 1 in 250,000 births | n2=en:age:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=35
  443. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:age:time:pt:^patient:qn:estimated
    n1=en:incidence of 1 in 250,000 births | n2=en:age:time:pt:^patient:qn:estimated | rel=r_associated | relid=0 | w=35
  444. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:all reported cases have occurred sporadically
    n1=en:incidence of 1 in 250,000 births | n2=en:all reported cases have occurred sporadically | rel=r_associated | relid=0 | w=35
  445. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:allelic disorder to adult polyglucosan body disease (263570)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to adult polyglucosan body disease (263570) | rel=r_associated | relid=0 | w=35
  446. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:allelic disorder to charcot-marie-tooth disease type 2d (cmt2d, 601472), but distinguished by less severe distal sensory involvement
    n1=en:incidence of 1 in 250,000 births | 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=35
  447. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder
    n1=en:incidence of 1 in 250,000 births | 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=35
  448. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:allelic disorder to duane-radial ray syndrome (drrs, 607323)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to duane-radial ray syndrome (drrs, 607323) | rel=r_associated | relid=0 | w=35
  449. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:allelic disorder to generalized epilepsy with seizures-plus (gefs+, 604233)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to generalized epilepsy with seizures-plus (gefs+, 604233) | rel=r_associated | relid=0 | w=35
  450. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:allelic disorder to glut1 deficiency syndrome 1 (606777)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to glut1 deficiency syndrome 1 (606777) | rel=r_associated | relid=0 | w=35
  451. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:allelic disorder to hypokalemic periodic paralysis (hokpp, 170400)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to hypokalemic periodic paralysis (hokpp, 170400) | rel=r_associated | relid=0 | w=35
  452. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:allelic disorder to juvenile-onset amyotrophic lateral sclerosis (als2, 205100)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to juvenile-onset amyotrophic lateral sclerosis (als2, 205100) | rel=r_associated | relid=0 | w=35
  453. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:allelic disorder to niemann-pick disease type a (257200)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to niemann-pick disease type a (257200) | rel=r_associated | relid=0 | w=35
  454. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:allelic disorder to spinal muscular atrophy type i (253300)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to spinal muscular atrophy type i (253300) | rel=r_associated | relid=0 | w=35
  455. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:allelic to atelosteogenesis, type ii (256050), achondrogenesis, type ib (600972), and multiple epiphyseal dysplasia, type 4 (226900)
    n1=en:incidence of 1 in 250,000 births | 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=35
  456. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900) | rel=r_associated | relid=0 | w=35
  457. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:allelic to diastrophic dysplasia (222600), atelosteogenesis, type ii (256050), and achondrogenesis, type ib (600972)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to diastrophic dysplasia (222600), atelosteogenesis, type ii (256050), and achondrogenesis, type ib (600972) | rel=r_associated | relid=0 | w=35
  458. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:allelic to grebe syndrome (200700), du pan syndrome (228900), and acromesomelic dysplasia, hunter thompson type (201250)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to grebe syndrome (200700), du pan syndrome (228900), and acromesomelic dysplasia, hunter thompson type (201250) | rel=r_associated | relid=0 | w=35
  459. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:allelic to kenny-caffey syndrome type 1 (244460)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to kenny-caffey syndrome type 1 (244460) | rel=r_associated | relid=0 | w=35
  460. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:allelic to marshall syndrome (154780)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to marshall syndrome (154780) | rel=r_associated | relid=0 | w=35
  461. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:allelic to multiple epiphyseal dysplasia, type 5 (607078) and hand osteoarthritis (607850)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to multiple epiphyseal dysplasia, type 5 (607078) and hand osteoarthritis (607850) | rel=r_associated | relid=0 | w=35
  462. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:allelic to pendred syndrome, deafness with goiter (274600)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to pendred syndrome, deafness with goiter (274600) | rel=r_associated | relid=0 | w=35
  463. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:allelic to robinow syndrome, autosomal recessive (268310)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to robinow syndrome, autosomal recessive (268310) | rel=r_associated | relid=0 | w=35
  464. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:allelic to senior-loken syndrome 1 (266900) and joubert syndrome 4 (609583)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to senior-loken syndrome 1 (266900) and joubert syndrome 4 (609583) | rel=r_associated | relid=0 | w=35
  465. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:allelic to senior-loken syndrome 6 (610189) and leber congenital amaurosis type x (610142)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to senior-loken syndrome 6 (610189) and leber congenital amaurosis type x (610142) | rel=r_associated | relid=0 | w=35
  466. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:allelic to sialuria, finnish type (604369)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to sialuria, finnish type (604369) | rel=r_associated | relid=0 | w=35
  467. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:allelic to trp1 (190350)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to trp1 (190350) | rel=r_associated | relid=0 | w=35
  468. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:allelic to usher syndrome, type id (601067)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to usher syndrome, type id (601067) | rel=r_associated | relid=0 | w=35
  469. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:also called 'heterozygous osmed' and 'autosomal dominant osmed'
    n1=en:incidence of 1 in 250,000 births | n2=en:also called 'heterozygous osmed' and 'autosomal dominant osmed' | rel=r_associated | relid=0 | w=35
  470. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype | rel=r_associated | relid=0 | w=35
  471. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:ambulation usually not achieved
    n1=en:incidence of 1 in 250,000 births | n2=en:ambulation usually not achieved | rel=r_associated | relid=0 | w=35
  472. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:anemia, diabetes, and deafness often show onset at different ages
    n1=en:incidence of 1 in 250,000 births | n2=en:anemia, diabetes, and deafness often show onset at different ages | rel=r_associated | relid=0 | w=35
  473. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> 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:incidence of 1 in 250,000 births | 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=35
  474. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:approximately 60% of cases are due to somatic mutations and are unilateral
    n1=en:incidence of 1 in 250,000 births | n2=en:approximately 60% of cases are due to somatic mutations and are unilateral | rel=r_associated | relid=0 | w=35
  475. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years)
    n1=en:incidence of 1 in 250,000 births | 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=35
  476. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:associated with fragile x syndrome (309550)
    n1=en:incidence of 1 in 250,000 births | n2=en:associated with fragile x syndrome (309550) | rel=r_associated | relid=0 | w=35
  477. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> 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:incidence of 1 in 250,000 births | 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=35
  478. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:associated with untreated phenylketonuria (261600)
    n1=en:incidence of 1 in 250,000 births | n2=en:associated with untreated phenylketonuria (261600) | rel=r_associated | relid=0 | w=35
  479. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:association of cardiac events with exercise
    n1=en:incidence of 1 in 250,000 births | n2=en:association of cardiac events with exercise | rel=r_associated | relid=0 | w=35
  480. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> 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:incidence of 1 in 250,000 births | 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=35
  481. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:attacks may present during or after sleep
    n1=en:incidence of 1 in 250,000 births | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
  482. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:autosomal dominant and autosomal recessive forms
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal dominant and autosomal recessive forms | rel=r_associated | relid=0 | w=35
  483. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:autosomal recessive cases have been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal recessive cases have been reported | rel=r_associated | relid=0 | w=35
  484. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:autosomal recessive cytochrome b-positive cgd, type i
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal recessive cytochrome b-positive cgd, type i | rel=r_associated | relid=0 | w=35
  485. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:autosomal recessive cytochrome b-positive cgd, type i (233700)
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal recessive cytochrome b-positive cgd, type i (233700) | rel=r_associated | relid=0 | w=35
  486. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:autosomal recessive cytochrome b-positive cgd, type ii
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal recessive cytochrome b-positive cgd, type ii | rel=r_associated | relid=0 | w=35
  487. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:autosomal recessive inheritance has been suggested
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal recessive inheritance has been suggested | rel=r_associated | relid=0 | w=35
  488. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:average age at onset 66 years although earlier onset may occur
    n1=en:incidence of 1 in 250,000 births | n2=en:average age at onset 66 years although earlier onset may occur | rel=r_associated | relid=0 | w=35
  489. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:based on 1 family (last curated september 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on 1 family (last curated september 2012) | rel=r_associated | relid=0 | w=35
  490. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:based on 1 patient with compound heterozygous mutation in ttc21b (last curated february 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on 1 patient with compound heterozygous mutation in ttc21b (last curated february 2014) | rel=r_associated | relid=0 | w=35
  491. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:based on 2 families described with no mutations in the vitamin d receptor gene (vdr, 601769)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on 2 families described with no mutations in the vitamin d receptor gene (vdr, 601769) | rel=r_associated | relid=0 | w=35
  492. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:based on 2 reported patients, 1 male and 1 female (last curated august 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on 2 reported patients, 1 male and 1 female (last curated august 2013) | rel=r_associated | relid=0 | w=35
  493. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:based on 4 patients in one family
    n1=en:incidence of 1 in 250,000 births | n2=en:based on 4 patients in one family | rel=r_associated | relid=0 | w=35
  494. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:based on one report of a 4-generation family with 4 affected males and 6 affected females
    n1=en:incidence of 1 in 250,000 births | 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=35
  495. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:based on report of 1 saudi arabian family (last curated february 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on report of 1 saudi arabian family (last curated february 2015) | rel=r_associated | relid=0 | w=35
  496. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:based on report of 2 individuals in 1 consanguineous family (last curated may 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on report of 2 individuals in 1 consanguineous family (last curated may 2014) | rel=r_associated | relid=0 | w=35
  497. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:based on report of 2 sisters (last curated october 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on report of 2 sisters (last curated october 2012) | rel=r_associated | relid=0 | w=35
  498. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:blistering may worsen during the summer
    n1=en:incidence of 1 in 250,000 births | n2=en:blistering may worsen during the summer | rel=r_associated | relid=0 | w=35
  499. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:both autosomal dominant and autosomal recessive inheritance have been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:both autosomal dominant and autosomal recessive inheritance have been reported | rel=r_associated | relid=0 | w=35
  500. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:brain anomalies variable
    n1=en:incidence of 1 in 250,000 births | n2=en:brain anomalies variable | rel=r_associated | relid=0 | w=35
  501. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:can be treated by bone marrow transplantation
    n1=en:incidence of 1 in 250,000 births | n2=en:can be treated by bone marrow transplantation | rel=r_associated | relid=0 | w=35
  502. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:cardiac arrest and sudden death may occur, even in early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:cardiac arrest and sudden death may occur, even in early childhood | rel=r_associated | relid=0 | w=35
  503. en:incidence of 1 in 250,000 births -- 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:incidence of 1 in 250,000 births | 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
  504. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:carrier females show no clinical phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:carrier females show no clinical phenotype | rel=r_associated | relid=0 | w=35
  505. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:cases reported include de novo deletions, interstitial deletions, and translocations involving only the terminal band of the reciprocal chromosome
    n1=en:incidence of 1 in 250,000 births | 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=35
  506. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:catshl is an acronym for camptodactyly, tall stature, scoliosis, and hearing loss
    n1=en:incidence of 1 in 250,000 births | n2=en:catshl is an acronym for camptodactyly, tall stature, scoliosis, and hearing loss | rel=r_associated | relid=0 | w=35
  507. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:caused by inactivating mutations in the parathyroid hormone receptor 1 gene, in contrast to jansen type metaphyseal chondrodysplasia, 156400
    n1=en:incidence of 1 in 250,000 births | 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=35
  508. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:cayler cardiofacial syndrome was classically described as hypoplasia of the depressor anguli oris muscle and congenital heart defects
    n1=en:incidence of 1 in 250,000 births | 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=35
  509. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:central apneic episodes may be fatal
    n1=en:incidence of 1 in 250,000 births | n2=en:central apneic episodes may be fatal | rel=r_associated | relid=0 | w=35
  510. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations
    n1=en:incidence of 1 in 250,000 births | 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=35
  511. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:characteristic face and body by age 2 years
    n1=en:incidence of 1 in 250,000 births | n2=en:characteristic face and body by age 2 years | rel=r_associated | relid=0 | w=35
  512. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:characterized by calf weakness at onset
    n1=en:incidence of 1 in 250,000 births | n2=en:characterized by calf weakness at onset | rel=r_associated | relid=0 | w=35
  513. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:citation:bib:pt:reference lab test:nar
    n1=en:incidence of 1 in 250,000 births | n2=en:citation:bib:pt:reference lab test:nar | rel=r_associated | relid=0 | w=35
  514. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:clinical heterogeneity of multiminicore disease (see 255320 and 607552)
    n1=en:incidence of 1 in 250,000 births | n2=en:clinical heterogeneity of multiminicore disease (see 255320 and 607552) | rel=r_associated | relid=0 | w=35
  515. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:clinical improvement after 2 to 3 weeks of supportive care
    n1=en:incidence of 1 in 250,000 births | n2=en:clinical improvement after 2 to 3 weeks of supportive care | rel=r_associated | relid=0 | w=35
  516. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:clinical overlap with charcot-marie-tooth disease type 2c (606071)
    n1=en:incidence of 1 in 250,000 births | n2=en:clinical overlap with charcot-marie-tooth disease type 2c (606071) | rel=r_associated | relid=0 | w=35
  517. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:clinical variability
    n1=en:incidence of 1 in 250,000 births | n2=en:clinical variability | rel=r_associated | relid=0 | w=35
  518. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:clinical variability seen in waardenburg syndrome type 1
    n1=en:incidence of 1 in 250,000 births | n2=en:clinical variability seen in waardenburg syndrome type 1 | rel=r_associated | relid=0 | w=35
  519. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:clinical variation
    n1=en:incidence of 1 in 250,000 births | n2=en:clinical variation | rel=r_associated | relid=0 | w=35
  520. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:clinically 'silent' nystagmus evident on eye movement recording in carrier females
    n1=en:incidence of 1 in 250,000 births | n2=en:clinically 'silent' nystagmus evident on eye movement recording in carrier females | rel=r_associated | relid=0 | w=35
  521. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:clonidine can alleviate hyperhidrosis
    n1=en:incidence of 1 in 250,000 births | n2=en:clonidine can alleviate hyperhidrosis | rel=r_associated | relid=0 | w=35
  522. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:colorectal cancer develops by fourth decade in untreated patients
    n1=en:incidence of 1 in 250,000 births | n2=en:colorectal cancer develops by fourth decade in untreated patients | rel=r_associated | relid=0 | w=35
  523. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:common in afrikaan population, south africa
    n1=en:incidence of 1 in 250,000 births | n2=en:common in afrikaan population, south africa | rel=r_associated | relid=0 | w=35
  524. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:common in south african whites
    n1=en:incidence of 1 in 250,000 births | n2=en:common in south african whites | rel=r_associated | relid=0 | w=35
  525. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:communication board, non-electronic augmentative or alternative communication device
    n1=en:incidence of 1 in 250,000 births | n2=en:communication board, non-electronic augmentative or alternative communication device | rel=r_associated | relid=0 | w=35
  526. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:complementation group c (variant mliii, 252605)
    n1=en:incidence of 1 in 250,000 births | n2=en:complementation group c (variant mliii, 252605) | rel=r_associated | relid=0 | w=35
  527. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:conduction defect is progressive
    n1=en:incidence of 1 in 250,000 births | n2=en:conduction defect is progressive | rel=r_associated | relid=0 | w=35
  528. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:contiguous gene deletion syndrome
    n1=en:incidence of 1 in 250,000 births | n2=en:contiguous gene deletion syndrome | rel=r_associated | relid=0 | w=35
  529. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:contiguous gene deletion syndrome of 5q31
    n1=en:incidence of 1 in 250,000 births | n2=en:contiguous gene deletion syndrome of 5q31 | rel=r_associated | relid=0 | w=35
  530. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:contractures other than plantar are less common and less severe
    n1=en:incidence of 1 in 250,000 births | n2=en:contractures other than plantar are less common and less severe | rel=r_associated | relid=0 | w=35
  531. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation
    n1=en:incidence of 1 in 250,000 births | n2=en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation | rel=r_associated | relid=0 | w=35
  532. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:cyp2d6 enzyme is located in the endoplasmic reticulum of the liver
    n1=en:incidence of 1 in 250,000 births | n2=en:cyp2d6 enzyme is located in the endoplasmic reticulum of the liver | rel=r_associated | relid=0 | w=35
  533. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:date reference lab test received:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative
    n1=en:incidence of 1 in 250,000 births | 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=35
  534. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:de novo deletions in 8% of patients (preferentially paternally derived)
    n1=en:incidence of 1 in 250,000 births | n2=en:de novo deletions in 8% of patients (preferentially paternally derived) | rel=r_associated | relid=0 | w=35
  535. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:de novo mutation identified in some patients
    n1=en:incidence of 1 in 250,000 births | n2=en:de novo mutation identified in some patients | rel=r_associated | relid=0 | w=35
  536. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:de novo mutations occur almost exclusively on the paternally derived x chromosome
    n1=en:incidence of 1 in 250,000 births | n2=en:de novo mutations occur almost exclusively on the paternally derived x chromosome | rel=r_associated | relid=0 | w=35
  537. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:deafness tends to occur before other neurologic signs, except in patients with very early onset
    n1=en:incidence of 1 in 250,000 births | n2=en:deafness tends to occur before other neurologic signs, except in patients with very early onset | rel=r_associated | relid=0 | w=35
  538. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:death about 20 years after symptom onset
    n1=en:incidence of 1 in 250,000 births | n2=en:death about 20 years after symptom onset | rel=r_associated | relid=0 | w=35
  539. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:death at 13 to 30 years
    n1=en:incidence of 1 in 250,000 births | n2=en:death at 13 to 30 years | rel=r_associated | relid=0 | w=35
  540. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:death at 20 to 40 years
    n1=en:incidence of 1 in 250,000 births | n2=en:death at 20 to 40 years | rel=r_associated | relid=0 | w=35
  541. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:death before age 40
    n1=en:incidence of 1 in 250,000 births | n2=en:death before age 40 | rel=r_associated | relid=0 | w=35
  542. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:death in infancy in 2 patients
    n1=en:incidence of 1 in 250,000 births | n2=en:death in infancy in 2 patients | rel=r_associated | relid=0 | w=35
  543. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:death in teens secondary to cardiac failure
    n1=en:incidence of 1 in 250,000 births | n2=en:death in teens secondary to cardiac failure | rel=r_associated | relid=0 | w=35
  544. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:death in untreated children
    n1=en:incidence of 1 in 250,000 births | n2=en:death in untreated children | rel=r_associated | relid=0 | w=35
  545. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:death in utero
    n1=en:incidence of 1 in 250,000 births | n2=en:death in utero | rel=r_associated | relid=0 | w=35
  546. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:death may occur in childhood due to respiratory failure
    n1=en:incidence of 1 in 250,000 births | n2=en:death may occur in childhood due to respiratory failure | rel=r_associated | relid=0 | w=35
  547. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:death secondary to respiratory insufficiency
    n1=en:incidence of 1 in 250,000 births | n2=en:death secondary to respiratory insufficiency | rel=r_associated | relid=0 | w=35
  548. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:death usually by 1 year of age
    n1=en:incidence of 1 in 250,000 births | n2=en:death usually by 1 year of age | rel=r_associated | relid=0 | w=35
  549. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:death usually by age 10 years
    n1=en:incidence of 1 in 250,000 births | n2=en:death usually by age 10 years | rel=r_associated | relid=0 | w=35
  550. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:death usually due to respiratory failure
    n1=en:incidence of 1 in 250,000 births | n2=en:death usually due to respiratory failure | rel=r_associated | relid=0 | w=35
  551. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:death usually in sixth decade
    n1=en:incidence of 1 in 250,000 births | n2=en:death usually in sixth decade | rel=r_associated | relid=0 | w=35
  552. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:death usually within first weeks of life
    n1=en:incidence of 1 in 250,000 births | n2=en:death usually within first weeks of life | rel=r_associated | relid=0 | w=35
  553. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:death within several months if untreated
    n1=en:incidence of 1 in 250,000 births | n2=en:death within several months if untreated | rel=r_associated | relid=0 | w=35
  554. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:decreased life expectancy
    n1=en:incidence of 1 in 250,000 births | n2=en:decreased life expectancy | rel=r_associated | relid=0 | w=35
  555. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:delayed separation of umbilical cord
    n1=en:incidence of 1 in 250,000 births | n2=en:delayed separation of umbilical cord | rel=r_associated | relid=0 | w=35
  556. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:deletions in naip gene (600355) found in 18% of sma2 patients
    n1=en:incidence of 1 in 250,000 births | n2=en:deletions in naip gene (600355) found in 18% of sma2 patients | rel=r_associated | relid=0 | w=35
  557. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:delta-f508 present in 70% of alleles
    n1=en:incidence of 1 in 250,000 births | n2=en:delta-f508 present in 70% of alleles | rel=r_associated | relid=0 | w=35
  558. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:deposits may recur in graft after corneal transplantation
    n1=en:incidence of 1 in 250,000 births | n2=en:deposits may recur in graft after corneal transplantation | rel=r_associated | relid=0 | w=35
  559. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:despite voluminous steatorrhea, patients' growth and overall state of health is good
    n1=en:incidence of 1 in 250,000 births | n2=en:despite voluminous steatorrhea, patients' growth and overall state of health is good | rel=r_associated | relid=0 | w=35
  560. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:detected in 1/50,000 in neonatal screening programs
    n1=en:incidence of 1 in 250,000 births | n2=en:detected in 1/50,000 in neonatal screening programs | rel=r_associated | relid=0 | w=35
  561. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:diabetes mellitus develops in adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:diabetes mellitus develops in adolescence | rel=r_associated | relid=0 | w=35
  562. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:diagnosis occurs between 23 and 33 weeks' gestation
    n1=en:incidence of 1 in 250,000 births | n2=en:diagnosis occurs between 23 and 33 weeks' gestation | rel=r_associated | relid=0 | w=35
  563. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses
    n1=en:incidence of 1 in 250,000 births | n2=en:diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses | rel=r_associated | relid=0 | w=35
  564. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes
    n1=en:incidence of 1 in 250,000 births | n2=en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes | rel=r_associated | relid=0 | w=35
  565. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:disorder usually remains stable over time
    n1=en:incidence of 1 in 250,000 births | n2=en:disorder usually remains stable over time | rel=r_associated | relid=0 | w=35
  566. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:distinct disorder from acquired limb-girdle myasthenia (159400) and limb-girdle myasthenia with tubular aggregates (610542)
    n1=en:incidence of 1 in 250,000 births | n2=en:distinct disorder from acquired limb-girdle myasthenia (159400) and limb-girdle myasthenia with tubular aggregates (610542) | rel=r_associated | relid=0 | w=35
  567. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:distinct disorder from familial erythrocytosis (ecyt1, 133100)
    n1=en:incidence of 1 in 250,000 births | n2=en:distinct disorder from familial erythrocytosis (ecyt1, 133100) | rel=r_associated | relid=0 | w=35
  568. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis
    n1=en:incidence of 1 in 250,000 births | n2=en:distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis | rel=r_associated | relid=0 | w=35
  569. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:distribution of lesions may be generalized, palmoplantar, or acral
    n1=en:incidence of 1 in 250,000 births | n2=en:distribution of lesions may be generalized, palmoplantar, or acral | rel=r_associated | relid=0 | w=35
  570. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:diurnal fluctuation
    n1=en:incidence of 1 in 250,000 births | n2=en:diurnal fluctuation | rel=r_associated | relid=0 | w=35
  571. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:dysarthria, dysphonia, or cough precede onset of ataxia
    n1=en:incidence of 1 in 250,000 births | n2=en:dysarthria, dysphonia, or cough precede onset of ataxia | rel=r_associated | relid=0 | w=35
  572. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:dyskinesia may occur in homozygotes (1 reported case)
    n1=en:incidence of 1 in 250,000 births | n2=en:dyskinesia may occur in homozygotes (1 reported case) | rel=r_associated | relid=0 | w=35
  573. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:early death in patients with cloverleaf skull
    n1=en:incidence of 1 in 250,000 births | n2=en:early death in patients with cloverleaf skull | rel=r_associated | relid=0 | w=35
  574. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:early death may occur
    n1=en:incidence of 1 in 250,000 births | n2=en:early death may occur | rel=r_associated | relid=0 | w=35
  575. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:early death often occurs from cardiac failure or infection
    n1=en:incidence of 1 in 250,000 births | n2=en:early death often occurs from cardiac failure or infection | rel=r_associated | relid=0 | w=35
  576. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:early lethality in most cases
    n1=en:incidence of 1 in 250,000 births | n2=en:early lethality in most cases | rel=r_associated | relid=0 | w=35
  577. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:early treatment can reduce neurologic symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:early treatment can reduce neurologic symptoms | rel=r_associated | relid=0 | w=35
  578. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:electrolyte imbalances can mimic renal bartter syndrome (601678)
    n1=en:incidence of 1 in 250,000 births | n2=en:electrolyte imbalances can mimic renal bartter syndrome (601678) | rel=r_associated | relid=0 | w=35
  579. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:environmental triggers include (koebner's phenomenon), sunburn, hiv infection, beta-hemolytic streptococcal infection, certain medications, stress, and alcohol
    n1=en:incidence of 1 in 250,000 births | 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=35
  580. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:enzyme replacement therapy will help visceral manifestations but cannot cross blood-brain barrier, so will not help neurodegeneration
    n1=en:incidence of 1 in 250,000 births | 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=35
  581. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:episode, syncopal
    n1=en:incidence of 1 in 250,000 births | n2=en:episode, syncopal | rel=r_associated | relid=0 | w=35
  582. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:episodes last 1 to 2 days
    n1=en:incidence of 1 in 250,000 births | n2=en:episodes last 1 to 2 days | rel=r_associated | relid=0 | w=35
  583. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:estimated frequence 1/3000 to 1/5000
    n1=en:incidence of 1 in 250,000 births | n2=en:estimated frequence 1/3000 to 1/5000 | rel=r_associated | relid=0 | w=35
  584. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:estimated frequency 1.6 cases/10,000 live births
    n1=en:incidence of 1 in 250,000 births | n2=en:estimated frequency 1.6 cases/10,000 live births | rel=r_associated | relid=0 | w=35
  585. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:estimated incidence of 1-2 in 10,000
    n1=en:incidence of 1 in 250,000 births | n2=en:estimated incidence of 1-2 in 10,000 | rel=r_associated | relid=0 | w=35
  586. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:excessive posttraumatic blood loss
    n1=en:incidence of 1 in 250,000 births | n2=en:excessive posttraumatic blood loss | rel=r_associated | relid=0 | w=35
  587. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:f syndrome (102510) has many overlapping features
    n1=en:incidence of 1 in 250,000 births | n2=en:f syndrome (102510) has many overlapping features | rel=r_associated | relid=0 | w=35
  588. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:facial dysmorphic features are mild
    n1=en:incidence of 1 in 250,000 births | n2=en:facial dysmorphic features are mild | rel=r_associated | relid=0 | w=35
  589. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:family history of sudden death, as early as fourth decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:family history of sudden death, as early as fourth decade of life | rel=r_associated | relid=0 | w=35
  590. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:fasting status:acnc:pt:^patient:ord:reported
    n1=en:incidence of 1 in 250,000 births | n2=en:fasting status:acnc:pt:^patient:ord:reported | rel=r_associated | relid=0 | w=35
  591. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:fat pads become less prominent with time
    n1=en:incidence of 1 in 250,000 births | n2=en:fat pads become less prominent with time | rel=r_associated | relid=0 | w=35
  592. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:fatal multiorgan failure due to severe inflammatory response in some patients
    n1=en:incidence of 1 in 250,000 births | n2=en:fatal multiorgan failure due to severe inflammatory response in some patients | rel=r_associated | relid=0 | w=35
  593. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:fatal outcome if untreated
    n1=en:incidence of 1 in 250,000 births | n2=en:fatal outcome if untreated | rel=r_associated | relid=0 | w=35
  594. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:fatal without hematopoietic stem cell transplantation
    n1=en:incidence of 1 in 250,000 births | n2=en:fatal without hematopoietic stem cell transplantation | rel=r_associated | relid=0 | w=35
  595. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:favorable response to alcohol in about 50%
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to alcohol in about 50% | rel=r_associated | relid=0 | w=35
  596. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:favorable response to immunotherapy
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to immunotherapy | rel=r_associated | relid=0 | w=35
  597. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:favorable response to oral creatine treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to oral creatine treatment | rel=r_associated | relid=0 | w=35
  598. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:features in addition to mental retardation are variable
    n1=en:incidence of 1 in 250,000 births | n2=en:features in addition to mental retardation are variable | rel=r_associated | relid=0 | w=35
  599. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:febrile seizures show onset between 6 months and 3 years
    n1=en:incidence of 1 in 250,000 births | n2=en:febrile seizures show onset between 6 months and 3 years | rel=r_associated | relid=0 | w=35
  600. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:female carriers experience significant clinical manifestations
    n1=en:incidence of 1 in 250,000 births | n2=en:female carriers experience significant clinical manifestations | rel=r_associated | relid=0 | w=35
  601. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:female carriers may be mildly affected
    n1=en:incidence of 1 in 250,000 births | n2=en:female carriers may be mildly affected | rel=r_associated | relid=0 | w=35
  602. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:female carriers may have mild hearing impairment and/or mild signs of choroideremia
    n1=en:incidence of 1 in 250,000 births | n2=en:female carriers may have mild hearing impairment and/or mild signs of choroideremia | rel=r_associated | relid=0 | w=35
  603. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:female carriers may have mild mental retardation
    n1=en:incidence of 1 in 250,000 births | n2=en:female carriers may have mild mental retardation | rel=r_associated | relid=0 | w=35
  604. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:female carriers may show mild learning disabilities
    n1=en:incidence of 1 in 250,000 births | n2=en:female carriers may show mild learning disabilities | rel=r_associated | relid=0 | w=35
  605. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:females are more often affected
    n1=en:incidence of 1 in 250,000 births | n2=en:females are more often affected | rel=r_associated | relid=0 | w=35
  606. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:females may be unaffected or mildly affected
    n1=en:incidence of 1 in 250,000 births | n2=en:females may be unaffected or mildly affected | rel=r_associated | relid=0 | w=35
  607. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:females more severely affected than males
    n1=en:incidence of 1 in 250,000 births | n2=en:females more severely affected than males | rel=r_associated | relid=0 | w=35
  608. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:fever, muscle cramping, and poor feeding remit by age 2 years
    n1=en:incidence of 1 in 250,000 births | n2=en:fever, muscle cramping, and poor feeding remit by age 2 years | rel=r_associated | relid=0 | w=35
  609. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:fifty percent of cases secondary to new mutations
    n1=en:incidence of 1 in 250,000 births | n2=en:fifty percent of cases secondary to new mutations | rel=r_associated | relid=0 | w=35
  610. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:findings in muscle biopsy may be variable
    n1=en:incidence of 1 in 250,000 births | n2=en:findings in muscle biopsy may be variable | rel=r_associated | relid=0 | w=35
  611. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada
    n1=en:incidence of 1 in 250,000 births | n2=en:first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada | rel=r_associated | relid=0 | w=35
  612. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:flunarizine treatment may be beneficial
    n1=en:incidence of 1 in 250,000 births | n2=en:flunarizine treatment may be beneficial | rel=r_associated | relid=0 | w=35
  613. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:for autosomal recessive forms, see cmt2b1 605588 and cmt2b2 605589
    n1=en:incidence of 1 in 250,000 births | n2=en:for autosomal recessive forms, see cmt2b1 605588 and cmt2b2 605589 | rel=r_associated | relid=0 | w=35
  614. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:found predominantly in the amish population
    n1=en:incidence of 1 in 250,000 births | n2=en:found predominantly in the amish population | rel=r_associated | relid=0 | w=35
  615. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:four clinically indistinguishable biochemically distinct forms
    n1=en:incidence of 1 in 250,000 births | n2=en:four clinically indistinguishable biochemically distinct forms | rel=r_associated | relid=0 | w=35
  616. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, 252900)
    n1=en:incidence of 1 in 250,000 births | n2=en:four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, 252900) | rel=r_associated | relid=0 | w=35
  617. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:four patients have been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:four patients have been reported | rel=r_associated | relid=0 | w=35
  618. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:four patients have been reported (as of december 2009)
    n1=en:incidence of 1 in 250,000 births | n2=en:four patients have been reported (as of december 2009) | rel=r_associated | relid=0 | w=35
  619. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:four patients of canadian cree origin and 1 patient of turkish origin have been reported (last curated november 2014)
    n1=en:incidence of 1 in 250,000 births | 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=35
  620. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:fracture frequency constant through childhood, decreases after puberty
    n1=en:incidence of 1 in 250,000 births | n2=en:fracture frequency constant through childhood, decreases after puberty | rel=r_associated | relid=0 | w=35
  621. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:frequency and severity of seizures tends to decrease with age
    n1=en:incidence of 1 in 250,000 births | n2=en:frequency and severity of seizures tends to decrease with age | rel=r_associated | relid=0 | w=35
  622. en:incidence of 1 in 250,000 births -- 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:incidence of 1 in 250,000 births | 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
  623. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:genetic anticipation associated with progressive telomere shortening
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic anticipation associated with progressive telomere shortening | rel=r_associated | relid=0 | w=35
  624. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (bor2, 610896)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (bor2, 610896) | rel=r_associated | relid=0 | w=35
  625. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see 209850)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see 209850) | rel=r_associated | relid=0 | w=35
  626. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see 606215)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see 606215) | rel=r_associated | relid=0 | w=35
  627. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see bafme1, 601068)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see bafme1, 601068) | rel=r_associated | relid=0 | w=35
  628. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see ebn2 121201, ebn3 608217)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see ebn2 121201, ebn3 608217) | rel=r_associated | relid=0 | w=35
  629. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see edm1 132400, edm2 600204, edm4 226900, edm5 607078)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see edm1 132400, edm2 600204, edm4 226900, edm5 607078) | rel=r_associated | relid=0 | w=35
  630. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see fhm1 141500 and mgr6 607516)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see fhm1 141500 and mgr6 607516) | rel=r_associated | relid=0 | w=35
  631. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see mcc2 deficiency 210210)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see mcc2 deficiency 210210) | rel=r_associated | relid=0 | w=35
  632. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131) | rel=r_associated | relid=0 | w=35
  633. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity for phenotypically similar disorders with specific language impairment (sli1 606711, sli2 606712, sli3 607134)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity for phenotypically similar disorders with specific language impairment (sli1 606711, sli2 606712, sli3 607134) | rel=r_associated | relid=0 | w=35
  634. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity, see (203300)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity, see (203300) | rel=r_associated | relid=0 | w=35
  635. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity, see evr1 (133780)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity, see evr1 (133780) | rel=r_associated | relid=0 | w=35
  636. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity, see sca1 (164400)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity, see sca1 (164400) | rel=r_associated | relid=0 | w=35
  637. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:good response to immunotherapy (intravenous igg or plasmapheresis)
    n1=en:incidence of 1 in 250,000 births | n2=en:good response to immunotherapy (intravenous igg or plasmapheresis) | rel=r_associated | relid=0 | w=35
  638. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:green color resolves if cholestasis is treated
    n1=en:incidence of 1 in 250,000 births | n2=en:green color resolves if cholestasis is treated | rel=r_associated | relid=0 | w=35
  639. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:group c is relatively benign
    n1=en:incidence of 1 in 250,000 births | n2=en:group c is relatively benign | rel=r_associated | relid=0 | w=35
  640. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012)
    n1=en:incidence of 1 in 250,000 births | n2=en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012) | rel=r_associated | relid=0 | w=35
  641. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:hand involvement improves with age
    n1=en:incidence of 1 in 250,000 births | n2=en:hand involvement improves with age | rel=r_associated | relid=0 | w=35
  642. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:hearing loss may be stable or progressive
    n1=en:incidence of 1 in 250,000 births | n2=en:hearing loss may be stable or progressive | rel=r_associated | relid=0 | w=35
  643. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:hearing loss progresses to profound deafness
    n1=en:incidence of 1 in 250,000 births | n2=en:hearing loss progresses to profound deafness | rel=r_associated | relid=0 | w=35
  644. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:hearing loss typically begins between 3 and 4 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:hearing loss typically begins between 3 and 4 years of age | rel=r_associated | relid=0 | w=35
  645. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:heterozygotes are not affected
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygotes are not affected | rel=r_associated | relid=0 | w=35
  646. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents | rel=r_associated | relid=0 | w=35
  647. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230)
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230) | rel=r_associated | relid=0 | w=35
  648. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:heterozygous females show variable expressivity (mild to severe manifestations) including hypodontia, conical teeth, reduction in scalp/body hair, and difficulty nursing
    n1=en:incidence of 1 in 250,000 births | 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=35
  649. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:heterozygous parents are phenotypically normal but their cells show premature chromatid separation trait (pcs, 176430)
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygous parents are phenotypically normal but their cells show premature chromatid separation trait (pcs, 176430) | rel=r_associated | relid=0 | w=35
  650. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:high frequencies affected before low frequencies
    n1=en:incidence of 1 in 250,000 births | n2=en:high frequencies affected before low frequencies | rel=r_associated | relid=0 | w=35
  651. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:high frequency in hutterite population
    n1=en:incidence of 1 in 250,000 births | n2=en:high frequency in hutterite population | rel=r_associated | relid=0 | w=35
  652. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:high frequency in the french-canadian population
    n1=en:incidence of 1 in 250,000 births | n2=en:high frequency in the french-canadian population | rel=r_associated | relid=0 | w=35
  653. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:high incidence in iraqis and sephardic jewish individuals
    n1=en:incidence of 1 in 250,000 births | n2=en:high incidence in iraqis and sephardic jewish individuals | rel=r_associated | relid=0 | w=35
  654. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:high prevalence in charlevoix-saguenay region of northeastern quebec
    n1=en:incidence of 1 in 250,000 births | n2=en:high prevalence in charlevoix-saguenay region of northeastern quebec | rel=r_associated | relid=0 | w=35
  655. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:highly variable clinical and immunologic phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:highly variable clinical and immunologic phenotype | rel=r_associated | relid=0 | w=35
  656. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:highly variable phenotype and age of onset
    n1=en:incidence of 1 in 250,000 births | n2=en:highly variable phenotype and age of onset | rel=r_associated | relid=0 | w=35
  657. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens')
    n1=en:incidence of 1 in 250,000 births | n2=en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') | rel=r_associated | relid=0 | w=35
  658. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:highly variable phenotype, even within families
    n1=en:incidence of 1 in 250,000 births | n2=en:highly variable phenotype, even within families | rel=r_associated | relid=0 | w=35
  659. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:highly variable severity of muscle weakness
    n1=en:incidence of 1 in 250,000 births | n2=en:highly variable severity of muscle weakness | rel=r_associated | relid=0 | w=35
  660. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome (176261.0001)
    n1=en:incidence of 1 in 250,000 births | n2=en:homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome (176261.0001) | rel=r_associated | relid=0 | w=35
  661. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:hypertension is presenting sign
    n1=en:incidence of 1 in 250,000 births | n2=en:hypertension is presenting sign | rel=r_associated | relid=0 | w=35
  662. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:improvement of epimetaphyseal changes with age
    n1=en:incidence of 1 in 250,000 births | n2=en:improvement of epimetaphyseal changes with age | rel=r_associated | relid=0 | w=35
  663. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns
    n1=en:incidence of 1 in 250,000 births | n2=en:in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns | rel=r_associated | relid=0 | w=35
  664. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:incidence 1 in 50,000-100,000 in western europe
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence 1 in 50,000-100,000 in western europe | rel=r_associated | relid=0 | w=35
  665. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:incidence in finland is 1 in 76,000 births
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence in finland is 1 in 76,000 births | rel=r_associated | relid=0 | w=35
  666. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:incidence in japan is 1 in 57,000
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence in japan is 1 in 57,000 | rel=r_associated | relid=0 | w=35
  667. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:incidence of 0.51 per million in france
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 0.51 per million in france | rel=r_associated | relid=0 | w=35
  668. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:incidence of 1 in 10,000 live births
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 10,000 live births | rel=r_associated | relid=0 | w=35
  669. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:incidence of 1 in 10,000 to 1 in 20,000
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 10,000 to 1 in 20,000 | rel=r_associated | relid=0 | w=35
  670. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:incidence of 1 in 150,000 live births in the general population
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 150,000 live births in the general population | rel=r_associated | relid=0 | w=35
  671. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region | rel=r_associated | relid=0 | w=35
  672. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:incidence of 1 in 3,900 births among jewish persons
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 3,900 births among jewish persons | rel=r_associated | relid=0 | w=35
  673. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:incidence of 1 in 320,000 births among non-jewish persons
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 320,000 births among non-jewish persons | rel=r_associated | relid=0 | w=35
  674. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:incidence of 1 in 480 among old order amish
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 480 among old order amish | rel=r_associated | relid=0 | w=35
  675. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:incidence of 1 in 6,000 males
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 6,000 males | rel=r_associated | relid=0 | w=35
  676. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:increased frequency among french-canadians from the charlevoix-saguenay-lac saint jean area of quebec (carrier rate 1 in 26)
    n1=en:incidence of 1 in 250,000 births | 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=35
  677. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:increased frequency among individuals of east asian descent
    n1=en:incidence of 1 in 250,000 births | n2=en:increased frequency among individuals of east asian descent | rel=r_associated | relid=0 | w=35
  678. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:increased frequency in finland (prevalence of 1 in 20,000)
    n1=en:incidence of 1 in 250,000 births | n2=en:increased frequency in finland (prevalence of 1 in 20,000) | rel=r_associated | relid=0 | w=35
  679. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:increased frequency in the dariusleut hutterites (canada)
    n1=en:incidence of 1 in 250,000 births | n2=en:increased frequency in the dariusleut hutterites (canada) | rel=r_associated | relid=0 | w=35
  680. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:increased paternal age
    n1=en:incidence of 1 in 250,000 births | n2=en:increased paternal age | rel=r_associated | relid=0 | w=35
  681. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:increased prevalence in individuals of jewish-iraqi origin
    n1=en:incidence of 1 in 250,000 births | n2=en:increased prevalence in individuals of jewish-iraqi origin | rel=r_associated | relid=0 | w=35
  682. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:infant death may occur secondary to sepsis
    n1=en:incidence of 1 in 250,000 births | n2=en:infant death may occur secondary to sepsis | rel=r_associated | relid=0 | w=35
  683. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:infantile form has onset within first 6 months of life
    n1=en:incidence of 1 in 250,000 births | n2=en:infantile form has onset within first 6 months of life | rel=r_associated | relid=0 | w=35
  684. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:infants may die from apnea or aspiration
    n1=en:incidence of 1 in 250,000 births | n2=en:infants may die from apnea or aspiration | rel=r_associated | relid=0 | w=35
  685. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:infertility
    n1=en:incidence of 1 in 250,000 births | n2=en:infertility | rel=r_associated | relid=0 | w=35
  686. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:initial cases reclassified as having schwartz-jampel syndrome (sjs1, 255800)
    n1=en:incidence of 1 in 250,000 births | n2=en:initial cases reclassified as having schwartz-jampel syndrome (sjs1, 255800) | rel=r_associated | relid=0 | w=35
  687. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:initially normal for first 6-18 months which is then followed by withdrawal and regression
    n1=en:incidence of 1 in 250,000 births | n2=en:initially normal for first 6-18 months which is then followed by withdrawal and regression | rel=r_associated | relid=0 | w=35
  688. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:intellectual disability is variable
    n1=en:incidence of 1 in 250,000 births | n2=en:intellectual disability is variable | rel=r_associated | relid=0 | w=35
  689. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:interfamilial and intrafamilial clinical heterogeneity
    n1=en:incidence of 1 in 250,000 births | n2=en:interfamilial and intrafamilial clinical heterogeneity | rel=r_associated | relid=0 | w=35
  690. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:internal organ rupture may occur
    n1=en:incidence of 1 in 250,000 births | n2=en:internal organ rupture may occur | rel=r_associated | relid=0 | w=35
  691. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:johanson-blizzard syndrome
    n1=en:incidence of 1 in 250,000 births | n2=en:johanson-blizzard syndrome | rel=r_associated | relid=0 | w=35
  692. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:joint laxity decreases with age
    n1=en:incidence of 1 in 250,000 births | n2=en:joint laxity decreases with age | rel=r_associated | relid=0 | w=35
  693. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:juvenile and adult forms are isolated glycerol kinase deficiency
    n1=en:incidence of 1 in 250,000 births | n2=en:juvenile and adult forms are isolated glycerol kinase deficiency | rel=r_associated | relid=0 | w=35
  694. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:juvenile-onset (before 15 years of age)
    n1=en:incidence of 1 in 250,000 births | n2=en:juvenile-onset (before 15 years of age) | rel=r_associated | relid=0 | w=35
  695. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:lack of treatment results in early death
    n1=en:incidence of 1 in 250,000 births | n2=en:lack of treatment results in early death | rel=r_associated | relid=0 | w=35
  696. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:late-adult onset (fifth to sixth decade)
    n1=en:incidence of 1 in 250,000 births | n2=en:late-adult onset (fifth to sixth decade) | rel=r_associated | relid=0 | w=35
  697. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:left sided involvement occurs more frequently
    n1=en:incidence of 1 in 250,000 births | n2=en:left sided involvement occurs more frequently | rel=r_associated | relid=0 | w=35
  698. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:length of attack, 3 to 7 days
    n1=en:incidence of 1 in 250,000 births | n2=en:length of attack, 3 to 7 days | rel=r_associated | relid=0 | w=35
  699. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:lesions continue to grow until epiphyseal plate closure
    n1=en:incidence of 1 in 250,000 births | n2=en:lesions continue to grow until epiphyseal plate closure | rel=r_associated | relid=0 | w=35
  700. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:lethal in the neonatal period
    n1=en:incidence of 1 in 250,000 births | n2=en:lethal in the neonatal period | rel=r_associated | relid=0 | w=35
  701. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:life-threatening infections
    n1=en:incidence of 1 in 250,000 births | n2=en:life-threatening infections | rel=r_associated | relid=0 | w=35
  702. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:liver involvement can range from mild to severe
    n1=en:incidence of 1 in 250,000 births | n2=en:liver involvement can range from mild to severe | rel=r_associated | relid=0 | w=35
  703. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:lower limb involvement occurs before upper limb involvement
    n1=en:incidence of 1 in 250,000 births | n2=en:lower limb involvement occurs before upper limb involvement | rel=r_associated | relid=0 | w=35
  704. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:major fluid shifts may occur in severe cases
    n1=en:incidence of 1 in 250,000 births | n2=en:major fluid shifts may occur in severe cases | rel=r_associated | relid=0 | w=35
  705. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:majority of cases are sporadic, some autosomal dominant families have been described
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of cases are sporadic, some autosomal dominant families have been described | rel=r_associated | relid=0 | w=35
  706. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 (300414) mutation)
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 (300414) mutation) | rel=r_associated | relid=0 | w=35
  707. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:majority of patients develop symptoms within the first few weeks of life
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of patients develop symptoms within the first few weeks of life | rel=r_associated | relid=0 | w=35
  708. en:incidence of 1 in 250,000 births -- 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:incidence of 1 in 250,000 births | 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
  709. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:manifestations present in second decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:manifestations present in second decade of life | rel=r_associated | relid=0 | w=35
  710. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:many features are present only in an untreated patient
    n1=en:incidence of 1 in 250,000 births | n2=en:many features are present only in an untreated patient | rel=r_associated | relid=0 | w=35
  711. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> 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:incidence of 1 in 250,000 births | 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=35
  712. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:marked phenotypic variability, even within an individual
    n1=en:incidence of 1 in 250,000 births | n2=en:marked phenotypic variability, even within an individual | rel=r_associated | relid=0 | w=35
  713. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:massive aortic aneurysm can cause airway compression in affected infants
    n1=en:incidence of 1 in 250,000 births | n2=en:massive aortic aneurysm can cause airway compression in affected infants | rel=r_associated | relid=0 | w=35
  714. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:may be fatal
    n1=en:incidence of 1 in 250,000 births | n2=en:may be fatal | rel=r_associated | relid=0 | w=35
  715. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents
    n1=en:incidence of 1 in 250,000 births | n2=en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents | rel=r_associated | relid=0 | w=35
  716. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:may manifest as 'ataxic' phenotype without parkinsonian features
    n1=en:incidence of 1 in 250,000 births | n2=en:may manifest as 'ataxic' phenotype without parkinsonian features | rel=r_associated | relid=0 | w=35
  717. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:may occur in adults (also in pregnancy)
    n1=en:incidence of 1 in 250,000 births | n2=en:may occur in adults (also in pregnancy) | rel=r_associated | relid=0 | w=35
  718. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:mean age at onset 12.5 years (range 2 to 15 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset 12.5 years (range 2 to 15 years) | rel=r_associated | relid=0 | w=35
  719. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:mean age at onset 15.2 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset 15.2 years | rel=r_associated | relid=0 | w=35
  720. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:mean age at onset 24 years (range 14 to 33 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset 24 years (range 14 to 33 years) | rel=r_associated | relid=0 | w=35
  721. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:mean age at onset 45 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset 45 years | rel=r_associated | relid=0 | w=35
  722. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:mean age at onset for sporadic cjd is 60 years (range, 50 to 70 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset for sporadic cjd is 60 years (range, 50 to 70 years) | rel=r_associated | relid=0 | w=35
  723. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:mean age at resolution of symptoms 10 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at resolution of symptoms 10 years | rel=r_associated | relid=0 | w=35
  724. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:mean age of diagnosis 40 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age of diagnosis 40 years | rel=r_associated | relid=0 | w=35
  725. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:mean age of onset 22 years (range 5-54)
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age of onset 22 years (range 5-54) | rel=r_associated | relid=0 | w=35
  726. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:mean age of onset 56 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age of onset 56 years | rel=r_associated | relid=0 | w=35
  727. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:mean age of onset about 62 years (45-79 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age of onset about 62 years (45-79 years) | rel=r_associated | relid=0 | w=35
  728. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported | rel=r_associated | relid=0 | w=35
  729. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:median age at onset 23 years
    n1=en:incidence of 1 in 250,000 births | n2=en:median age at onset 23 years | rel=r_associated | relid=0 | w=35
  730. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:median onset of neurologic symptoms is 13 years (range 5 to 28)
    n1=en:incidence of 1 in 250,000 births | n2=en:median onset of neurologic symptoms is 13 years (range 5 to 28) | rel=r_associated | relid=0 | w=35
  731. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:mild adult form, with onset after age 13 years, no cardiac involvement, and restricted to muscle involvement with rhabdomyolysis
    n1=en:incidence of 1 in 250,000 births | 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=35
  732. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:mild manifestations in carrier females (cleft lip, cleft tongue)
    n1=en:incidence of 1 in 250,000 births | n2=en:mild manifestations in carrier females (cleft lip, cleft tongue) | rel=r_associated | relid=0 | w=35
  733. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:mild phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:mild phenotype | rel=r_associated | relid=0 | w=35
  734. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate)
    n1=en:incidence of 1 in 250,000 births | n2=en:milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate) | rel=r_associated | relid=0 | w=35
  735. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:minimal response to surfactant treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:minimal response to surfactant treatment | rel=r_associated | relid=0 | w=35
  736. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:more common in ashkenazi jews
    n1=en:incidence of 1 in 250,000 births | n2=en:more common in ashkenazi jews | rel=r_associated | relid=0 | w=35
  737. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:more common in women
    n1=en:incidence of 1 in 250,000 births | n2=en:more common in women | rel=r_associated | relid=0 | w=35
  738. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001)
    n1=en:incidence of 1 in 250,000 births | n2=en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001) | rel=r_associated | relid=0 | w=35
  739. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:most cases are responsive to steroids
    n1=en:incidence of 1 in 250,000 births | n2=en:most cases are responsive to steroids | rel=r_associated | relid=0 | w=35
  740. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:most cases result from de novo mutations
    n1=en:incidence of 1 in 250,000 births | n2=en:most cases result from de novo mutations | rel=r_associated | relid=0 | w=35
  741. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:most common age of clinical onset ranges from 16 to 33 years
    n1=en:incidence of 1 in 250,000 births | n2=en:most common age of clinical onset ranges from 16 to 33 years | rel=r_associated | relid=0 | w=35
  742. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:most common inherited ataxia
    n1=en:incidence of 1 in 250,000 births | n2=en:most common inherited ataxia | rel=r_associated | relid=0 | w=35
  743. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:most patients die in the neonatal period due to respiratory insufficiency
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients die in the neonatal period due to respiratory insufficiency | rel=r_associated | relid=0 | w=35
  744. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:most patients have de novo mutations
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients have de novo mutations | rel=r_associated | relid=0 | w=35
  745. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:most patients require ambulatory aids about 10 years after onset
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients require ambulatory aids about 10 years after onset | rel=r_associated | relid=0 | w=35
  746. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:most patients require liver transplant in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients require liver transplant in childhood | rel=r_associated | relid=0 | w=35
  747. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:most patients show early childhood onset after a period of normal development
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients show early childhood onset after a period of normal development | rel=r_associated | relid=0 | w=35
  748. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:motor symptoms develop later (about 5 years into illness)
    n1=en:incidence of 1 in 250,000 births | n2=en:motor symptoms develop later (about 5 years into illness) | rel=r_associated | relid=0 | w=35
  749. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:muscle involvement shows onset at birth or in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:muscle involvement shows onset at birth or in infancy | rel=r_associated | relid=0 | w=35
  750. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:mutation in npr2 results in gain-of-function
    n1=en:incidence of 1 in 250,000 births | n2=en:mutation in npr2 results in gain-of-function | rel=r_associated | relid=0 | w=35
  751. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:mutation in rp9 gene in family (607331.0001) likely not pathogenic
    n1=en:incidence of 1 in 250,000 births | n2=en:mutation in rp9 gene in family (607331.0001) likely not pathogenic | rel=r_associated | relid=0 | w=35
  752. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:neurologic symptoms may develop decades later
    n1=en:incidence of 1 in 250,000 births | n2=en:neurologic symptoms may develop decades later | rel=r_associated | relid=0 | w=35
  753. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:neuromuscular, cardiovascular, and infectious symptoms improve with age
    n1=en:incidence of 1 in 250,000 births | n2=en:neuromuscular, cardiovascular, and infectious symptoms improve with age | rel=r_associated | relid=0 | w=35
  754. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:neuropathy becomes apparent in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:neuropathy becomes apparent in childhood | rel=r_associated | relid=0 | w=35
  755. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective
    n1=en:incidence of 1 in 250,000 births | n2=en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective | rel=r_associated | relid=0 | w=35
  756. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:no abnormalities of skin, hair, teeth, or bones
    n1=en:incidence of 1 in 250,000 births | n2=en:no abnormalities of skin, hair, teeth, or bones | rel=r_associated | relid=0 | w=35
  757. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:no family history of
    n1=en:incidence of 1 in 250,000 births | n2=en:no family history of | rel=r_associated | relid=0 | w=35
  758. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:no history of familial hypercholesterolemia
    n1=en:incidence of 1 in 250,000 births | n2=en:no history of familial hypercholesterolemia | rel=r_associated | relid=0 | w=35
  759. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:no male-to-male transmission
    n1=en:incidence of 1 in 250,000 births | n2=en:no male-to-male transmission | rel=r_associated | relid=0 | w=35
  760. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:no mutations reported in la reunion island patients (last curated august 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:no mutations reported in la reunion island patients (last curated august 2014) | rel=r_associated | relid=0 | w=35
  761. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:no systemic manifestations
    n1=en:incidence of 1 in 250,000 births | n2=en:no systemic manifestations | rel=r_associated | relid=0 | w=35
  762. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:nonprogressive hepatic form is less frequent
    n1=en:incidence of 1 in 250,000 births | n2=en:nonprogressive hepatic form is less frequent | rel=r_associated | relid=0 | w=35
  763. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:nonprogressive or slowly progressive
    n1=en:incidence of 1 in 250,000 births | n2=en:nonprogressive or slowly progressive | rel=r_associated | relid=0 | w=35
  764. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:nonsyndromic disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:nonsyndromic disorder | rel=r_associated | relid=0 | w=35
  765. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:normal ability to tolerate heat
    n1=en:incidence of 1 in 250,000 births | n2=en:normal ability to tolerate heat | rel=r_associated | relid=0 | w=35
  766. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:normal birth (finding)
    n1=en:incidence of 1 in 250,000 births | n2=en:normal birth (finding) | rel=r_associated | relid=0 | w=35
  767. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:normal female secondary sexual characteristics
    n1=en:incidence of 1 in 250,000 births | n2=en:normal female secondary sexual characteristics | rel=r_associated | relid=0 | w=35
  768. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:normal growth and development after 1 year of age
    n1=en:incidence of 1 in 250,000 births | n2=en:normal growth and development after 1 year of age | rel=r_associated | relid=0 | w=35
  769. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:normal neonatal course
    n1=en:incidence of 1 in 250,000 births | n2=en:normal neonatal course | rel=r_associated | relid=0 | w=35
  770. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:normal physical and neurologic development
    n1=en:incidence of 1 in 250,000 births | n2=en:normal physical and neurologic development | rel=r_associated | relid=0 | w=35
  771. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:not all patients have skeletal muscle symptoms or mental retardation
    n1=en:incidence of 1 in 250,000 births | n2=en:not all patients have skeletal muscle symptoms or mental retardation | rel=r_associated | relid=0 | w=35
  772. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:nyctalopia is a later feature of the disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:nyctalopia is a later feature of the disorder | rel=r_associated | relid=0 | w=35
  773. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:occurs in 1 in 50,000 newborn males
    n1=en:incidence of 1 in 250,000 births | n2=en:occurs in 1 in 50,000 newborn males | rel=r_associated | relid=0 | w=35
  774. en:incidence of 1 in 250,000 births -- 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:incidence of 1 in 250,000 births | 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
  775. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:occurs in women and is triggered by pregnancy or estrogen therapy
    n1=en:incidence of 1 in 250,000 births | n2=en:occurs in women and is triggered by pregnancy or estrogen therapy | rel=r_associated | relid=0 | w=35
  776. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:ocular phenotype falls within a spectrum of retinal dystrophy from severe, leber congenital amaurosis, to less severe, juvenile retinitis pigmentosa
    n1=en:incidence of 1 in 250,000 births | 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=35
  777. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:often confused with tuberous sclerosis (191000)
    n1=en:incidence of 1 in 250,000 births | n2=en:often confused with tuberous sclerosis (191000) | rel=r_associated | relid=0 | w=35
  778. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:often lethal in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:often lethal in infancy | rel=r_associated | relid=0 | w=35
  779. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:often presents with cranial or cervical involvement
    n1=en:incidence of 1 in 250,000 births | n2=en:often presents with cranial or cervical involvement | rel=r_associated | relid=0 | w=35
  780. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:older patients become wheelchair-dependent
    n1=en:incidence of 1 in 250,000 births | n2=en:older patients become wheelchair-dependent | rel=r_associated | relid=0 | w=35
  781. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one consanguineous arab israeli family has been reported (last curated february, 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one consanguineous arab israeli family has been reported (last curated february, 2013) | rel=r_associated | relid=0 | w=35
  782. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011) | rel=r_associated | relid=0 | w=35
  783. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one consanguineous family has been reported (last curated december 2010)
    n1=en:incidence of 1 in 250,000 births | n2=en:one consanguineous family has been reported (last curated december 2010) | rel=r_associated | relid=0 | w=35
  784. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one consanguineous family has been reported (last curated june 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one consanguineous family has been reported (last curated june 2014) | rel=r_associated | relid=0 | w=35
  785. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one consanguineous family has been reported (last curated may 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one consanguineous family has been reported (last curated may 2014) | rel=r_associated | relid=0 | w=35
  786. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012) | rel=r_associated | relid=0 | w=35
  787. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013) | rel=r_associated | relid=0 | w=35
  788. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one consanguineous moroccan family has been reported (as of january 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one consanguineous moroccan family has been reported (as of january 2012) | rel=r_associated | relid=0 | w=35
  789. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one consanguineous pakistani family reported (last curated august 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one consanguineous pakistani family reported (last curated august 2013) | rel=r_associated | relid=0 | w=35
  790. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one consanguineous turkish family has been reported (last curated november 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one consanguineous turkish family has been reported (last curated november 2014) | rel=r_associated | relid=0 | w=35
  791. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one family and 1 unrelated patient have been reported (last curated july 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family and 1 unrelated patient have been reported (last curated july 2013) | rel=r_associated | relid=0 | w=35
  792. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one family has been reported (as of august 2010)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (as of august 2010) | rel=r_associated | relid=0 | w=35
  793. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one family has been reported (as of october 2010)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (as of october 2010) | rel=r_associated | relid=0 | w=35
  794. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one family has been reported with limited clinical information (last curated october 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported with limited clinical information (last curated october 2014) | rel=r_associated | relid=0 | w=35
  795. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one family reported with piezo2 mutation (last curated january 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family reported with piezo2 mutation (last curated january 2015) | rel=r_associated | relid=0 | w=35
  796. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one family with a fatal subacute encephalopathy has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:one family with a fatal subacute encephalopathy has been reported | rel=r_associated | relid=0 | w=35
  797. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one family with confirmed genetic basis has been reported (last curated september 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family with confirmed genetic basis has been reported (last curated september 2013) | rel=r_associated | relid=0 | w=35
  798. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one french family has been reported (as of march 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one french family has been reported (as of march 2012) | rel=r_associated | relid=0 | w=35
  799. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one highly consanguineous family has been reported (last curated may 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one highly consanguineous family has been reported (last curated may 2014) | rel=r_associated | relid=0 | w=35
  800. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one japanese patient has been reported (last curated september 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one japanese patient has been reported (last curated september 2014) | rel=r_associated | relid=0 | w=35
  801. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one large consanguineous israeli bedouin kindred has been reported (last curated april 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one large consanguineous israeli bedouin kindred has been reported (last curated april 2013) | rel=r_associated | relid=0 | w=35
  802. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one large family has been reported (as of 2008)
    n1=en:incidence of 1 in 250,000 births | n2=en:one large family has been reported (as of 2008) | rel=r_associated | relid=0 | w=35
  803. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one of the 2 most common forms of oca in the world along with oca1
    n1=en:incidence of 1 in 250,000 births | n2=en:one of the 2 most common forms of oca in the world along with oca1 | rel=r_associated | relid=0 | w=35
  804. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one pakistani reported (last curated november 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one pakistani reported (last curated november 2012) | rel=r_associated | relid=0 | w=35
  805. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one patient has been reported (as of january 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient has been reported (as of january 2012) | rel=r_associated | relid=0 | w=35
  806. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one patient has been reported (as of may 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient has been reported (as of may 2011) | rel=r_associated | relid=0 | w=35
  807. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one patient has been reported (last curated february 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient has been reported (last curated february 2015) | rel=r_associated | relid=0 | w=35
  808. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one patient has been reported (last curated june 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient has been reported (last curated june 2014) | rel=r_associated | relid=0 | w=35
  809. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one patient has been reported (last curated may 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient has been reported (last curated may 2012) | rel=r_associated | relid=0 | w=35
  810. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one patient has been reported (last curated september 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient has been reported (last curated september 2013) | rel=r_associated | relid=0 | w=35
  811. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one patient was less severely affected
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient was less severely affected | rel=r_associated | relid=0 | w=35
  812. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one patient with additional features of fanconi anemia has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient with additional features of fanconi anemia has been reported | rel=r_associated | relid=0 | w=35
  813. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:one-third of cases are familial
    n1=en:incidence of 1 in 250,000 births | n2=en:one-third of cases are familial | rel=r_associated | relid=0 | w=35
  814. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis
    n1=en:incidence of 1 in 250,000 births | n2=en:only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis | rel=r_associated | relid=0 | w=35
  815. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:only 10% develop hypertension at 18 years of age or less
    n1=en:incidence of 1 in 250,000 births | n2=en:only 10% develop hypertension at 18 years of age or less | rel=r_associated | relid=0 | w=35
  816. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset 5-30 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset 5-30 years | rel=r_associated | relid=0 | w=35
  817. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset 70-90 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset 70-90 years | rel=r_associated | relid=0 | w=35
  818. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset after puberty
    n1=en:incidence of 1 in 250,000 births | n2=en:onset after puberty | rel=r_associated | relid=0 | w=35
  819. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset around adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:onset around adolescence | rel=r_associated | relid=0 | w=35
  820. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset at age 10 to 14 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset at age 10 to 14 years | rel=r_associated | relid=0 | w=35
  821. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset before 10 years of age in all patients
    n1=en:incidence of 1 in 250,000 births | n2=en:onset before 10 years of age in all patients | rel=r_associated | relid=0 | w=35
  822. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset between 2 to 20 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between 2 to 20 years | rel=r_associated | relid=0 | w=35
  823. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset between 7 and 18 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between 7 and 18 years | rel=r_associated | relid=0 | w=35
  824. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset between 8 and 30 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between 8 and 30 years | rel=r_associated | relid=0 | w=35
  825. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset day of life 1-10 in infants fed lactose-containing milk
    n1=en:incidence of 1 in 250,000 births | n2=en:onset day of life 1-10 in infants fed lactose-containing milk | rel=r_associated | relid=0 | w=35
  826. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset in adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in adolescence | rel=r_associated | relid=0 | w=35
  827. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset in childhood (3 to 10 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood (3 to 10 years) | rel=r_associated | relid=0 | w=35
  828. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset in childhood (mean 6 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood (mean 6 years) | rel=r_associated | relid=0 | w=35
  829. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset in childhood or adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood or adolescence | rel=r_associated | relid=0 | w=35
  830. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset in childhood or early adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood or early adolescence | rel=r_associated | relid=0 | w=35
  831. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset in early childhood (2-4 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in early childhood (2-4 years) | rel=r_associated | relid=0 | w=35
  832. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset in early childhood (infancy to 5 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in early childhood (infancy to 5 years) | rel=r_associated | relid=0 | w=35
  833. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset in females ranges from third to seventh decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in females ranges from third to seventh decade | rel=r_associated | relid=0 | w=35
  834. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset in first months or years of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in first months or years of life | rel=r_associated | relid=0 | w=35
  835. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset in fourth to sixth decades
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in fourth to sixth decades | rel=r_associated | relid=0 | w=35
  836. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset in infancy (1-2 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in infancy (1-2 years) | rel=r_associated | relid=0 | w=35
  837. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset in infancy of acute hypoglycemic episodes
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in infancy of acute hypoglycemic episodes | rel=r_associated | relid=0 | w=35
  838. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset in infancy, but may not be diagnosed until later in mild cases
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in infancy, but may not be diagnosed until later in mild cases | rel=r_associated | relid=0 | w=35
  839. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset in males in first to third decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in males in first to third decade | rel=r_associated | relid=0 | w=35
  840. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset in second and third decades
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in second and third decades | rel=r_associated | relid=0 | w=35
  841. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset in the fourth to sixth decades (mean 40 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in the fourth to sixth decades (mean 40 years) | rel=r_associated | relid=0 | w=35
  842. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset in utero or in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in utero or in infancy | rel=r_associated | relid=0 | w=35
  843. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset in young adulthood (range 18 to 23 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in young adulthood (range 18 to 23 years) | rel=r_associated | relid=0 | w=35
  844. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset late childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset late childhood | rel=r_associated | relid=0 | w=35
  845. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset of acne in adolescence, persists into adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of acne in adolescence, persists into adulthood | rel=r_associated | relid=0 | w=35
  846. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset of ataxia between 1 and 3 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of ataxia between 1 and 3 years of age | rel=r_associated | relid=0 | w=35
  847. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset of bleeding symptoms in childhood or young adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of bleeding symptoms in childhood or young adulthood | rel=r_associated | relid=0 | w=35
  848. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset of cardiomyopathy may occur several months after birth
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of cardiomyopathy may occur several months after birth | rel=r_associated | relid=0 | w=35
  849. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset of disease around 10 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of disease around 10 years of age | rel=r_associated | relid=0 | w=35
  850. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset of fractures 4-18 months of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of fractures 4-18 months of life | rel=r_associated | relid=0 | w=35
  851. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset of joint contractures later in life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of joint contractures later in life | rel=r_associated | relid=0 | w=35
  852. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset of kyphosis in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of kyphosis in childhood | rel=r_associated | relid=0 | w=35
  853. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset of liver involvement in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of liver involvement in infancy | rel=r_associated | relid=0 | w=35
  854. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset of malignancy can occur throughout life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of malignancy can occur throughout life | rel=r_associated | relid=0 | w=35
  855. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset of optic neuropathy is usually in early adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of optic neuropathy is usually in early adulthood | rel=r_associated | relid=0 | w=35
  856. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset of other symptoms in adolescence or early adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of other symptoms in adolescence or early adulthood | rel=r_associated | relid=0 | w=35
  857. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset of scoliosis as early as 2 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of scoliosis as early as 2 years of age | rel=r_associated | relid=0 | w=35
  858. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset of skin lesions at birth
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of skin lesions at birth | rel=r_associated | relid=0 | w=35
  859. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset of symptoms in first decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of symptoms in first decade of life | rel=r_associated | relid=0 | w=35
  860. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset of symptoms in the fourth to sixth decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of symptoms in the fourth to sixth decade of life | rel=r_associated | relid=0 | w=35
  861. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset of symptoms usually in adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of symptoms usually in adulthood | rel=r_associated | relid=0 | w=35
  862. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset ranges from birth to age 4 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset ranges from birth to age 4 years | rel=r_associated | relid=0 | w=35
  863. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset ranges from early childhood to adulthood (usually before age 15)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset ranges from early childhood to adulthood (usually before age 15) | rel=r_associated | relid=0 | w=35
  864. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset usually after viral-like infection
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually after viral-like infection | rel=r_associated | relid=0 | w=35
  865. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset usually before age 10 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually before age 10 years | rel=r_associated | relid=0 | w=35
  866. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset usually in adulthood although childhood onset has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in adulthood although childhood onset has been reported | rel=r_associated | relid=0 | w=35
  867. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset usually in second or third decades
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in second or third decades | rel=r_associated | relid=0 | w=35
  868. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:onset within first 3 months of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset within first 3 months of life | rel=r_associated | relid=0 | w=35
  869. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:oral contraceptives may also cause symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:oral contraceptives may also cause symptoms | rel=r_associated | relid=0 | w=35
  870. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> 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:incidence of 1 in 250,000 births | 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=35
  871. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> 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:incidence of 1 in 250,000 births | 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=35
  872. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:overlapping pathologic features with x-linked myopathy with excessive autophagy (xmea, 310440)
    n1=en:incidence of 1 in 250,000 births | n2=en:overlapping pathologic features with x-linked myopathy with excessive autophagy (xmea, 310440) | rel=r_associated | relid=0 | w=35
  873. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:pain most commonly affects the trunk, extremities, pelvic region, buttocks
    n1=en:incidence of 1 in 250,000 births | n2=en:pain most commonly affects the trunk, extremities, pelvic region, buttocks | rel=r_associated | relid=0 | w=35
  874. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:painful cramping following ischemic exercise test
    n1=en:incidence of 1 in 250,000 births | n2=en:painful cramping following ischemic exercise test | rel=r_associated | relid=0 | w=35
  875. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:parental somatic mosaicism in 2 cases produced mild phenotype in the patients
    n1=en:incidence of 1 in 250,000 births | n2=en:parental somatic mosaicism in 2 cases produced mild phenotype in the patients | rel=r_associated | relid=0 | w=35
  876. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:partial factor viii deficiency in heterozygous carriers
    n1=en:incidence of 1 in 250,000 births | n2=en:partial factor viii deficiency in heterozygous carriers | rel=r_associated | relid=0 | w=35
  877. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:pathogenic alleles have 19 to 33 repeats
    n1=en:incidence of 1 in 250,000 births | n2=en:pathogenic alleles have 19 to 33 repeats | rel=r_associated | relid=0 | w=35
  878. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:patients become wheelchair-bound as adults
    n1=en:incidence of 1 in 250,000 births | n2=en:patients become wheelchair-bound as adults | rel=r_associated | relid=0 | w=35
  879. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:patients have normal levels of vitamin a, beta-carotene, and zinc
    n1=en:incidence of 1 in 250,000 births | n2=en:patients have normal levels of vitamin a, beta-carotene, and zinc | rel=r_associated | relid=0 | w=35
  880. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:patients may be asymptomatic, but are at risk for metabolic decompensation
    n1=en:incidence of 1 in 250,000 births | n2=en:patients may be asymptomatic, but are at risk for metabolic decompensation | rel=r_associated | relid=0 | w=35
  881. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:patients may become wheelchair-bound after about 12 years
    n1=en:incidence of 1 in 250,000 births | n2=en:patients may become wheelchair-bound after about 12 years | rel=r_associated | relid=0 | w=35
  882. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:patients may present with either renal or neurologic symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:patients may present with either renal or neurologic symptoms | rel=r_associated | relid=0 | w=35
  883. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:patients with contiguous gene deletion of 8q24 have more severe features
    n1=en:incidence of 1 in 250,000 births | n2=en:patients with contiguous gene deletion of 8q24 have more severe features | rel=r_associated | relid=0 | w=35
  884. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:patients with longer disease duration show motor neuron involvement
    n1=en:incidence of 1 in 250,000 births | n2=en:patients with longer disease duration show motor neuron involvement | rel=r_associated | relid=0 | w=35
  885. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:patients with medication-resistant hypertension require bilateral adrenalectomy
    n1=en:incidence of 1 in 250,000 births | n2=en:patients with medication-resistant hypertension require bilateral adrenalectomy | rel=r_associated | relid=0 | w=35
  886. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, 609136)
    n1=en:incidence of 1 in 250,000 births | n2=en:patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, 609136) | rel=r_associated | relid=0 | w=35
  887. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:patients with null mutations have neonatal onset within 72 hours of birth
    n1=en:incidence of 1 in 250,000 births | n2=en:patients with null mutations have neonatal onset within 72 hours of birth | rel=r_associated | relid=0 | w=35
  888. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:perinatal lethality
    n1=en:incidence of 1 in 250,000 births | n2=en:perinatal lethality | rel=r_associated | relid=0 | w=35
  889. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:periodontium is less severely affected than in papillon-lefevre syndrome
    n1=en:incidence of 1 in 250,000 births | n2=en:periodontium is less severely affected than in papillon-lefevre syndrome | rel=r_associated | relid=0 | w=35
  890. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:persistent exposure to fructose leads to chronic liver and kidney complications
    n1=en:incidence of 1 in 250,000 births | n2=en:persistent exposure to fructose leads to chronic liver and kidney complications | rel=r_associated | relid=0 | w=35
  891. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:phenotype is indistinguishable from congenital cytomegalovirus (cmv) infection
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotype is indistinguishable from congenital cytomegalovirus (cmv) infection | rel=r_associated | relid=0 | w=35
  892. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:phenotype is worsened by cold temperature
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotype is worsened by cold temperature | rel=r_associated | relid=0 | w=35
  893. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:phenotype may or may not be consistent within a family.
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotype may or may not be consistent within a family. | rel=r_associated | relid=0 | w=35
  894. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:phenotypic overlap with fhm1 (141500) and sca6 (183086)
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic overlap with fhm1 (141500) and sca6 (183086) | rel=r_associated | relid=0 | w=35
  895. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:phenotypic similarities to leigh syndrome (256000)
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic similarities to leigh syndrome (256000) | rel=r_associated | relid=0 | w=35
  896. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:phenotypic variability, intrafamilial
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic variability, intrafamilial | rel=r_associated | relid=0 | w=35
  897. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:phenotypic variation
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic variation | rel=r_associated | relid=0 | w=35
  898. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:pigmented spots appear in infancy through childhood and fade in adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:pigmented spots appear in infancy through childhood and fade in adulthood | rel=r_associated | relid=0 | w=35
  899. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:possible autosomal recessive form 258650 and x-linked form cmtx5 311070
    n1=en:incidence of 1 in 250,000 births | n2=en:possible autosomal recessive form 258650 and x-linked form cmtx5 311070 | rel=r_associated | relid=0 | w=35
  900. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:possible genetic heterogeneity (linkage to xp22 in some families)
    n1=en:incidence of 1 in 250,000 births | n2=en:possible genetic heterogeneity (linkage to xp22 in some families) | rel=r_associated | relid=0 | w=35
  901. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:possible x-linked dominant inheritance
    n1=en:incidence of 1 in 250,000 births | n2=en:possible x-linked dominant inheritance | rel=r_associated | relid=0 | w=35
  902. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:possible x-linked inheritance
    n1=en:incidence of 1 in 250,000 births | n2=en:possible x-linked inheritance | rel=r_associated | relid=0 | w=35
  903. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:precipitated by general anesthesia
    n1=en:incidence of 1 in 250,000 births | n2=en:precipitated by general anesthesia | rel=r_associated | relid=0 | w=35
  904. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:precipitated by sleep deprivation
    n1=en:incidence of 1 in 250,000 births | n2=en:precipitated by sleep deprivation | rel=r_associated | relid=0 | w=35
  905. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:precipitating factors include viral illness and pregnancy
    n1=en:incidence of 1 in 250,000 births | n2=en:precipitating factors include viral illness and pregnancy | rel=r_associated | relid=0 | w=35
  906. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:prenatal diagnosis available
    n1=en:incidence of 1 in 250,000 births | n2=en:prenatal diagnosis available | rel=r_associated | relid=0 | w=35
  907. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:prenatal history of maternal diabetes in 35% of cases
    n1=en:incidence of 1 in 250,000 births | n2=en:prenatal history of maternal diabetes in 35% of cases | rel=r_associated | relid=0 | w=35
  908. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:prenatal onset
    n1=en:incidence of 1 in 250,000 births | n2=en:prenatal onset | rel=r_associated | relid=0 | w=35
  909. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:presentation in first year of life
    n1=en:incidence of 1 in 250,000 births | n2=en:presentation in first year of life | rel=r_associated | relid=0 | w=35
  910. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:presents as early-onset strokes in 43% of patients
    n1=en:incidence of 1 in 250,000 births | n2=en:presents as early-onset strokes in 43% of patients | rel=r_associated | relid=0 | w=35
  911. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> 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:incidence of 1 in 250,000 births | 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=35
  912. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:prevalence in taiwan is 1 in 132,000
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence in taiwan is 1 in 132,000 | rel=r_associated | relid=0 | w=35
  913. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:prevalence of 1 in 2,833 in zimbabwe
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 1 in 2,833 in zimbabwe | rel=r_associated | relid=0 | w=35
  914. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:prevalence of 1 in 227 hopi indians
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 1 in 227 hopi indians | rel=r_associated | relid=0 | w=35
  915. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:prevalence of 7 in 100,000 live births
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 7 in 100,000 live births | rel=r_associated | relid=0 | w=35
  916. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:prevalence of homozygous c4a deficiency in sle 10-15x higher than general population
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of homozygous c4a deficiency in sle 10-15x higher than general population | rel=r_associated | relid=0 | w=35
  917. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:prevalent among european, particularly spanish, gypsies (r1109x, 608206.0006)
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalent among european, particularly spanish, gypsies (r1109x, 608206.0006) | rel=r_associated | relid=0 | w=35
  918. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:prevalent in ashkenazi jews
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalent in ashkenazi jews | rel=r_associated | relid=0 | w=35
  919. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:primary teeth affected greater than secondary teeth
    n1=en:incidence of 1 in 250,000 births | n2=en:primary teeth affected greater than secondary teeth | rel=r_associated | relid=0 | w=35
  920. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:protracted disease course
    n1=en:incidence of 1 in 250,000 births | n2=en:protracted disease course | rel=r_associated | relid=0 | w=35
  921. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:rapid progression to disability
    n1=en:incidence of 1 in 250,000 births | n2=en:rapid progression to disability | rel=r_associated | relid=0 | w=35
  922. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:rapidly progressive course
    n1=en:incidence of 1 in 250,000 births | n2=en:rapidly progressive course | rel=r_associated | relid=0 | w=35
  923. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:recurrent bacterial infections with onset in the first or second year of life
    n1=en:incidence of 1 in 250,000 births | n2=en:recurrent bacterial infections with onset in the first or second year of life | rel=r_associated | relid=0 | w=35
  924. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:reference lab test reference range:finding:time reported elsewhere:reference lab test:nominal
    n1=en:incidence of 1 in 250,000 births | n2=en:reference lab test reference range:finding:time reported elsewhere:reference lab test:nominal | rel=r_associated | relid=0 | w=35
  925. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:relapsing-remitting course
    n1=en:incidence of 1 in 250,000 births | n2=en:relapsing-remitting course | rel=r_associated | relid=0 | w=35
  926. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:reported in individuals of jewish moroccan ancestry
    n1=en:incidence of 1 in 250,000 births | n2=en:reported in individuals of jewish moroccan ancestry | rel=r_associated | relid=0 | w=35
  927. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:reported in individuals of sephardic jewish ancestry
    n1=en:incidence of 1 in 250,000 births | n2=en:reported in individuals of sephardic jewish ancestry | rel=r_associated | relid=0 | w=35
  928. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:resembles intrauterine torch infection but without intrauterine infection
    n1=en:incidence of 1 in 250,000 births | n2=en:resembles intrauterine torch infection but without intrauterine infection | rel=r_associated | relid=0 | w=35
  929. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:see also adult-onset stiff person syndrome (184850)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also adult-onset stiff person syndrome (184850) | rel=r_associated | relid=0 | w=35
  930. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:see also an adult-onset form (213600)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also an adult-onset form (213600) | rel=r_associated | relid=0 | w=35
  931. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:see also antley-bixler syndrome (abs) with normal steroidogenesis (207410)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also antley-bixler syndrome (abs) with normal steroidogenesis (207410) | rel=r_associated | relid=0 | w=35
  932. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:see also autosomal dominant fmf (134610), caused by heterozygous mutations in the mefv gene
    n1=en:incidence of 1 in 250,000 births | n2=en:see also autosomal dominant fmf (134610), caused by heterozygous mutations in the mefv gene | rel=r_associated | relid=0 | w=35
  933. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:see also autosomal dominant lutheran-null phenotype (111150)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also autosomal dominant lutheran-null phenotype (111150) | rel=r_associated | relid=0 | w=35
  934. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:see also autosomal form, 146450, and another x-linked form, 300633
    n1=en:incidence of 1 in 250,000 births | n2=en:see also autosomal form, 146450, and another x-linked form, 300633 | rel=r_associated | relid=0 | w=35
  935. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:see also benign familial infantile convulsions (bfic1, 601764)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also benign familial infantile convulsions (bfic1, 601764) | rel=r_associated | relid=0 | w=35
  936. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:see also congenital stiff person syndrome (149400)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also congenital stiff person syndrome (149400) | rel=r_associated | relid=0 | w=35
  937. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:see also dyggve-melchior-clausen disease (223800)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also dyggve-melchior-clausen disease (223800) | rel=r_associated | relid=0 | w=35
  938. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:see also febrile seizures (feb1, 121210)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also febrile seizures (feb1, 121210) | rel=r_associated | relid=0 | w=35
  939. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:see also mmaa (251100)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also mmaa (251100) | rel=r_associated | relid=0 | w=35
  940. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:see also pachyonychia congenita, type 3 (pc1, 167200)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also pachyonychia congenita, type 3 (pc1, 167200) | rel=r_associated | relid=0 | w=35
  941. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:see also peeling skin syndrome, acral type (609796)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also peeling skin syndrome, acral type (609796) | rel=r_associated | relid=0 | w=35
  942. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:see also pseudohypoparathyroidism type ib (603233) and ic (612462)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also pseudohypoparathyroidism type ib (603233) and ic (612462) | rel=r_associated | relid=0 | w=35
  943. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:see also recessive deb (226600), an allelic disorder with a more severe phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:see also recessive deb (226600), an allelic disorder with a more severe phenotype | rel=r_associated | relid=0 | w=35
  944. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:see also two x-linked forms 300633 and 300758
    n1=en:incidence of 1 in 250,000 births | n2=en:see also two x-linked forms 300633 and 300758 | rel=r_associated | relid=0 | w=35
  945. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> 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:incidence of 1 in 250,000 births | 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=35
  946. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:seizure severity and frequency tend to improve with age
    n1=en:incidence of 1 in 250,000 births | n2=en:seizure severity and frequency tend to improve with age | rel=r_associated | relid=0 | w=35
  947. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:seizures are fever-sensitive
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures are fever-sensitive | rel=r_associated | relid=0 | w=35
  948. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:seizures may occur upon awakening or at any time during the day
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures may occur upon awakening or at any time during the day | rel=r_associated | relid=0 | w=35
  949. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:seizures tend to occur upon awakening
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures tend to occur upon awakening | rel=r_associated | relid=0 | w=35
  950. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:seizures usually occur in the first months of life
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures usually occur in the first months of life | rel=r_associated | relid=0 | w=35
  951. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:seizures usually remit in adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures usually remit in adolescence | rel=r_associated | relid=0 | w=35
  952. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:service comment 05:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=35
  953. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:service comment 12:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=35
  954. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:service comment 19:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=35
  955. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:service comment 33:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=35
  956. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:service comment 40:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=35
  957. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:service comment 42:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=35
  958. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:service comment 49:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=35
  959. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:service comment 62:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=35
  960. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:service comment 70:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=35
  961. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:severity of hematologic disorder decreases with advancing age
    n1=en:incidence of 1 in 250,000 births | n2=en:severity of hematologic disorder decreases with advancing age | rel=r_associated | relid=0 | w=35
  962. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:signs and symptoms depend on tumor location and activity
    n1=en:incidence of 1 in 250,000 births | n2=en:signs and symptoms depend on tumor location and activity | rel=r_associated | relid=0 | w=35
  963. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:skeletal and facial features are variable
    n1=en:incidence of 1 in 250,000 births | n2=en:skeletal and facial features are variable | rel=r_associated | relid=0 | w=35
  964. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:skin lesion appear shortly after birth and tend to disappear in young adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:skin lesion appear shortly after birth and tend to disappear in young adulthood | rel=r_associated | relid=0 | w=35
  965. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:skin lesions tend to occur on distal extremities or at elbows and knees
    n1=en:incidence of 1 in 250,000 births | n2=en:skin lesions tend to occur on distal extremities or at elbows and knees | rel=r_associated | relid=0 | w=35
  966. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:sleep disturbance or sleep apnea (obstructive, central, or mixed)
    n1=en:incidence of 1 in 250,000 births | n2=en:sleep disturbance or sleep apnea (obstructive, central, or mixed) | rel=r_associated | relid=0 | w=35
  967. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:sleep terrors usually remit during adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:sleep terrors usually remit during adolescence | rel=r_associated | relid=0 | w=35
  968. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:slight increased risk for malignancy
    n1=en:incidence of 1 in 250,000 births | n2=en:slight increased risk for malignancy | rel=r_associated | relid=0 | w=35
  969. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:some patients are clinically unaffected.
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients are clinically unaffected. | rel=r_associated | relid=0 | w=35
  970. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:some patients can hold menial jobs
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients can hold menial jobs | rel=r_associated | relid=0 | w=35
  971. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> 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:incidence of 1 in 250,000 births | 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=35
  972. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:some patients have a milder nonprogressive phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients have a milder nonprogressive phenotype | rel=r_associated | relid=0 | w=35
  973. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:some patients have an attenuated phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients have an attenuated phenotype | rel=r_associated | relid=0 | w=35
  974. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:some patients have juvenile-onset myoclonic epilepsy
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients have juvenile-onset myoclonic epilepsy | rel=r_associated | relid=0 | w=35
  975. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:some patients have milder persistent blistering
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients have milder persistent blistering | rel=r_associated | relid=0 | w=35
  976. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:some patients have no or mild manifestations and normal development
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients have no or mild manifestations and normal development | rel=r_associated | relid=0 | w=35
  977. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:some patients have only ocular involvement or only oral involvement
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients have only ocular involvement or only oral involvement | rel=r_associated | relid=0 | w=35
  978. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:some patients have resolution of symptoms in first year of life
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients have resolution of symptoms in first year of life | rel=r_associated | relid=0 | w=35
  979. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:some patients may present with myopathic features
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may present with myopathic features | rel=r_associated | relid=0 | w=35
  980. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:some patients show improvement during summer or with fever
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients show improvement during summer or with fever | rel=r_associated | relid=0 | w=35
  981. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:some patients with advanced loss of vision have normal eog
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients with advanced loss of vision have normal eog | rel=r_associated | relid=0 | w=35
  982. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:spinal tumors are necessary for diagnosis
    n1=en:incidence of 1 in 250,000 births | n2=en:spinal tumors are necessary for diagnosis | rel=r_associated | relid=0 | w=35
  983. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:spontaneously resolves by 5 to 6 months of age
    n1=en:incidence of 1 in 250,000 births | n2=en:spontaneously resolves by 5 to 6 months of age | rel=r_associated | relid=0 | w=35
  984. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:sporadic occurrence
    n1=en:incidence of 1 in 250,000 births | n2=en:sporadic occurrence | rel=r_associated | relid=0 | w=35
  985. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:stable or slowly progressive course
    n1=en:incidence of 1 in 250,000 births | n2=en:stable or slowly progressive course | rel=r_associated | relid=0 | w=35
  986. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:static or slowly progressive
    n1=en:incidence of 1 in 250,000 births | n2=en:static or slowly progressive | rel=r_associated | relid=0 | w=35
  987. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:stillborn or death in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:stillborn or death in infancy | rel=r_associated | relid=0 | w=35
  988. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:stillborn or death shortly after birth
    n1=en:incidence of 1 in 250,000 births | n2=en:stillborn or death shortly after birth | rel=r_associated | relid=0 | w=35
  989. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:sudden cardiac death in some families
    n1=en:incidence of 1 in 250,000 births | n2=en:sudden cardiac death in some families | rel=r_associated | relid=0 | w=35
  990. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:sudden death secondary to impaction of medulla oblongata
    n1=en:incidence of 1 in 250,000 births | n2=en:sudden death secondary to impaction of medulla oblongata | rel=r_associated | relid=0 | w=35
  991. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:sudden death within first days of life
    n1=en:incidence of 1 in 250,000 births | n2=en:sudden death within first days of life | rel=r_associated | relid=0 | w=35
  992. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:survival to 10 years
    n1=en:incidence of 1 in 250,000 births | n2=en:survival to 10 years | rel=r_associated | relid=0 | w=35
  993. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:survivors develop dysautonomia-like symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:survivors develop dysautonomia-like symptoms | rel=r_associated | relid=0 | w=35
  994. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:symptoms may be aggravated by acute illness
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms may be aggravated by acute illness | rel=r_associated | relid=0 | w=35
  995. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:symptoms often improve gradually with age
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms often improve gradually with age | rel=r_associated | relid=0 | w=35
  996. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:symptoms relieved by serotonin antagonist (in some patients)
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms relieved by serotonin antagonist (in some patients) | rel=r_associated | relid=0 | w=35
  997. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:symptoms typically begin in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms typically begin in childhood | rel=r_associated | relid=0 | w=35
  998. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:symptoms vary according to location of tumor
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms vary according to location of tumor | rel=r_associated | relid=0 | w=35
  999. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:tendency to lighter pigmentation than unaffected relatives
    n1=en:incidence of 1 in 250,000 births | n2=en:tendency to lighter pigmentation than unaffected relatives | rel=r_associated | relid=0 | w=35
  1000. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:the acronym midas is microphthalmia, dermal aplasia, sclerocornea
    n1=en:incidence of 1 in 250,000 births | n2=en:the acronym midas is microphthalmia, dermal aplasia, sclerocornea | rel=r_associated | relid=0 | w=35
  1001. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:thin, fine hair described in few individuals
    n1=en:incidence of 1 in 250,000 births | n2=en:thin, fine hair described in few individuals | rel=r_associated | relid=0 | w=35
  1002. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:three families have been reported (last curated november 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:three families have been reported (last curated november 2014) | rel=r_associated | relid=0 | w=35
  1003. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:three patients from 1 mexican family has been reported (last curated april 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:three patients from 1 mexican family has been reported (last curated april 2013) | rel=r_associated | relid=0 | w=35
  1004. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:three patients have been reported (as of november 2010)
    n1=en:incidence of 1 in 250,000 births | n2=en:three patients have been reported (as of november 2010) | rel=r_associated | relid=0 | w=35
  1005. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:three unrelated families have been reported (as of june 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:three unrelated families have been reported (as of june 2011) | rel=r_associated | relid=0 | w=35
  1006. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:three unrelated families have been reported (last curated october 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:three unrelated families have been reported (last curated october 2014) | rel=r_associated | relid=0 | w=35
  1007. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:time of analysis:tmstp:pt:xxx:qn
    n1=en:incidence of 1 in 250,000 births | n2=en:time of analysis:tmstp:pt:xxx:qn | rel=r_associated | relid=0 | w=35
  1008. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:trauma, im injection, surgery can be foci of ectopic ossification
    n1=en:incidence of 1 in 250,000 births | n2=en:trauma, im injection, surgery can be foci of ectopic ossification | rel=r_associated | relid=0 | w=35
  1009. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:treatment with vitamin d and phosphate is effective
    n1=en:incidence of 1 in 250,000 births | n2=en:treatment with vitamin d and phosphate is effective | rel=r_associated | relid=0 | w=35
  1010. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:two brothers have been reported (as of february 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two brothers have been reported (as of february 2012) | rel=r_associated | relid=0 | w=35
  1011. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:two families have been reported (september 2010)
    n1=en:incidence of 1 in 250,000 births | n2=en:two families have been reported (september 2010) | rel=r_associated | relid=0 | w=35
  1012. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:two loci described - eec1 (129900) and eec3 (604292)
    n1=en:incidence of 1 in 250,000 births | n2=en:two loci described - eec1 (129900) and eec3 (604292) | rel=r_associated | relid=0 | w=35
  1013. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:two patients from spain have been reported (as of january 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two patients from spain have been reported (as of january 2012) | rel=r_associated | relid=0 | w=35
  1014. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:two patients have been reported (as of august 2010)
    n1=en:incidence of 1 in 250,000 births | n2=en:two patients have been reported (as of august 2010) | rel=r_associated | relid=0 | w=35
  1015. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:two patients have been reported (as of august 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:two patients have been reported (as of august 2011) | rel=r_associated | relid=0 | w=35
  1016. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:two patients with a wws phenotype have been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:two patients with a wws phenotype have been reported | rel=r_associated | relid=0 | w=35
  1017. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:two patients with heterozygous prickle1 mutations and limited clinical and familial details have been reported (last curated january 2015)
    n1=en:incidence of 1 in 250,000 births | 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=35
  1018. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:two sibs born of consanguineous moroccan parents have been reported (last curated may 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two sibs born of consanguineous moroccan parents have been reported (last curated may 2012) | rel=r_associated | relid=0 | w=35
  1019. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:two sibs have been reported (last curated october 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two sibs have been reported (last curated october 2014) | rel=r_associated | relid=0 | w=35
  1020. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:two sisters have been reported (last curated september 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:two sisters have been reported (last curated september 2013) | rel=r_associated | relid=0 | w=35
  1021. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:two subtypes noninflammatory type a and inflammatory type b
    n1=en:incidence of 1 in 250,000 births | n2=en:two subtypes noninflammatory type a and inflammatory type b | rel=r_associated | relid=0 | w=35
  1022. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:two unrelated boys reported with relatively mild phenotype (last curated may 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated boys reported with relatively mild phenotype (last curated may 2012) | rel=r_associated | relid=0 | w=35
  1023. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:two unrelated families have been reported (last curated april 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated families have been reported (last curated april 2014) | rel=r_associated | relid=0 | w=35
  1024. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:two unrelated families have been reported (last curated august 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated families have been reported (last curated august 2014) | rel=r_associated | relid=0 | w=35
  1025. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:two unrelated patients have been reported (last curated july 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients have been reported (last curated july 2014) | rel=r_associated | relid=0 | w=35
  1026. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:type ii is adult-onset (kanzaki disease, 609242)
    n1=en:incidence of 1 in 250,000 births | n2=en:type ii is adult-onset (kanzaki disease, 609242) | rel=r_associated | relid=0 | w=35
  1027. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> 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:incidence of 1 in 250,000 births | 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=35
  1028. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:u.s. frequency higher in blacks than whites
    n1=en:incidence of 1 in 250,000 births | n2=en:u.s. frequency higher in blacks than whites | rel=r_associated | relid=0 | w=35
  1029. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic)
    n1=en:incidence of 1 in 250,000 births | n2=en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic) | rel=r_associated | relid=0 | w=35
  1030. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:ultrarapid metabolizers have multiple copies of the cyp2d6 gene (124030.0007)
    n1=en:incidence of 1 in 250,000 births | n2=en:ultrarapid metabolizers have multiple copies of the cyp2d6 gene (124030.0007) | rel=r_associated | relid=0 | w=35
  1031. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:uniparental disomy
    n1=en:incidence of 1 in 250,000 births | n2=en:uniparental disomy | rel=r_associated | relid=0 | w=35
  1032. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:usual age of onset in the 20s and 30s
    n1=en:incidence of 1 in 250,000 births | n2=en:usual age of onset in the 20s and 30s | rel=r_associated | relid=0 | w=35
  1033. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:usually follows a static course or is slowly progressive
    n1=en:incidence of 1 in 250,000 births | n2=en:usually follows a static course or is slowly progressive | rel=r_associated | relid=0 | w=35
  1034. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:usually shows early age at onset (range 1 to 7 years, mean 4.6 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:usually shows early age at onset (range 1 to 7 years, mean 4.6 years) | rel=r_associated | relid=0 | w=35
  1035. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:usually sporadic disorder resulting from de novo 22q11.2 deletion
    n1=en:incidence of 1 in 250,000 births | n2=en:usually sporadic disorder resulting from de novo 22q11.2 deletion | rel=r_associated | relid=0 | w=35
  1036. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:variable age at onset (childhood to age 50)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (childhood to age 50) | rel=r_associated | relid=0 | w=35
  1037. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:variable age at onset (range first to fourth decade)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (range first to fourth decade) | rel=r_associated | relid=0 | w=35
  1038. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:variable age at onset (range infancy to adulthood)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (range infancy to adulthood) | rel=r_associated | relid=0 | w=35
  1039. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:variable age of onset (childhood to young adulthood)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age of onset (childhood to young adulthood) | rel=r_associated | relid=0 | w=35
  1040. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:variable age of onset (range 13 to 67 years, median 48 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age of onset (range 13 to 67 years, median 48 years) | rel=r_associated | relid=0 | w=35
  1041. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:variable extraneurologic features
    n1=en:incidence of 1 in 250,000 births | n2=en:variable extraneurologic features | rel=r_associated | relid=0 | w=35
  1042. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:variable facial dysmorphic features
    n1=en:incidence of 1 in 250,000 births | n2=en:variable facial dysmorphic features | rel=r_associated | relid=0 | w=35
  1043. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:variable frequency (2 per day up to 1 per month)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable frequency (2 per day up to 1 per month) | rel=r_associated | relid=0 | w=35
  1044. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:variable heat tolerance
    n1=en:incidence of 1 in 250,000 births | n2=en:variable heat tolerance | rel=r_associated | relid=0 | w=35
  1045. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:variable ictal semiology
    n1=en:incidence of 1 in 250,000 births | n2=en:variable ictal semiology | rel=r_associated | relid=0 | w=35
  1046. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:variable penetrance and expressivity
    n1=en:incidence of 1 in 250,000 births | n2=en:variable penetrance and expressivity | rel=r_associated | relid=0 | w=35
  1047. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:variable phenotype and severity
    n1=en:incidence of 1 in 250,000 births | n2=en:variable phenotype and severity | rel=r_associated | relid=0 | w=35
  1048. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:variable response to acetazolamide and carbamazepine
    n1=en:incidence of 1 in 250,000 births | n2=en:variable response to acetazolamide and carbamazepine | rel=r_associated | relid=0 | w=35
  1049. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:variable response to steroid treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:variable response to steroid treatment | rel=r_associated | relid=0 | w=35
  1050. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:very low occurrence of retinal, hepatic, pancreatic, and renal anomalies
    n1=en:incidence of 1 in 250,000 births | n2=en:very low occurrence of retinal, hepatic, pancreatic, and renal anomalies | rel=r_associated | relid=0 | w=35
  1051. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:wheelchair-bound average 12 years after onset
    n1=en:incidence of 1 in 250,000 births | n2=en:wheelchair-bound average 12 years after onset | rel=r_associated | relid=0 | w=35
  1052. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:worldwide frequency of 1 in 2,000,000
    n1=en:incidence of 1 in 250,000 births | n2=en:worldwide frequency of 1 in 2,000,000 | rel=r_associated | relid=0 | w=35
  1053. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:x-linked mental retardation-hypotonic facies syndrome (309580) is an allelic disorder without alpha-thalassemia
    n1=en:incidence of 1 in 250,000 births | n2=en:x-linked mental retardation-hypotonic facies syndrome (309580) is an allelic disorder without alpha-thalassemia | rel=r_associated | relid=0 | w=35
  1054. en:incidence of 1 in 250,000 births -- r_associated #0: 35 / 0.814 -> en:young adult onset (range 13 to 50 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:young adult onset (range 13 to 50 years) | rel=r_associated | relid=0 | w=35
  1055. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:(2) intermittent
    n1=en:incidence of 1 in 250,000 births | n2=en:(2) intermittent | rel=r_associated | relid=0 | w=34
  1056. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:1 in 19,000 in japan
    n1=en:incidence of 1 in 250,000 births | n2=en:1 in 19,000 in japan | rel=r_associated | relid=0 | w=34
  1057. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:1 patient reported (last curated may 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:1 patient reported (last curated may 2012) | rel=r_associated | relid=0 | w=34
  1058. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:2 patients described
    n1=en:incidence of 1 in 250,000 births | n2=en:2 patients described | rel=r_associated | relid=0 | w=34
  1059. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome (192430)
    n1=en:incidence of 1 in 250,000 births | n2=en:22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome (192430) | rel=r_associated | relid=0 | w=34
  1060. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:23 patients from 2 kindreds reported (as of february 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:23 patients from 2 kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=34
  1061. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:75% of affected individuals are female
    n1=en:incidence of 1 in 250,000 births | n2=en:75% of affected individuals are female | rel=r_associated | relid=0 | w=34
  1062. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:a subset of patients are responsive to vitamin b12 therapy
    n1=en:incidence of 1 in 250,000 births | n2=en:a subset of patients are responsive to vitamin b12 therapy | rel=r_associated | relid=0 | w=34
  1063. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis
    n1=en:incidence of 1 in 250,000 births | n2=en:about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis | rel=r_associated | relid=0 | w=34
  1064. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:about 10% of patients develop exercise-induced renal failure and nephrolithiasis
    n1=en:incidence of 1 in 250,000 births | n2=en:about 10% of patients develop exercise-induced renal failure and nephrolithiasis | rel=r_associated | relid=0 | w=34
  1065. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:about 20% of female mutation carriers may show mild muscle weakness
    n1=en:incidence of 1 in 250,000 births | n2=en:about 20% of female mutation carriers may show mild muscle weakness | rel=r_associated | relid=0 | w=34
  1066. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:about 8% of female mutation carriers develop dilated cardiomyopathy
    n1=en:incidence of 1 in 250,000 births | n2=en:about 8% of female mutation carriers develop dilated cardiomyopathy | rel=r_associated | relid=0 | w=34
  1067. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:absence of both inner and outer dynein arms of cilia
    n1=en:incidence of 1 in 250,000 births | n2=en:absence of both inner and outer dynein arms of cilia | rel=r_associated | relid=0 | w=34
  1068. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:accounts for 30-50% of lymphomas in children
    n1=en:incidence of 1 in 250,000 births | n2=en:accounts for 30-50% of lymphomas in children | rel=r_associated | relid=0 | w=34
  1069. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:acquired protein s deficiency seen in pregnancy, oral contraceptive use, warfarin use, liver disease, dic, and diabetes
    n1=en:incidence of 1 in 250,000 births | 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=34
  1070. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:acral form of skin peeling limited to hands and feet (609796)
    n1=en:incidence of 1 in 250,000 births | n2=en:acral form of skin peeling limited to hands and feet (609796) | rel=r_associated | relid=0 | w=34
  1071. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:acute episodes decrease with age and disappear
    n1=en:incidence of 1 in 250,000 births | n2=en:acute episodes decrease with age and disappear | rel=r_associated | relid=0 | w=34
  1072. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:adult onset (mean 27 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (mean 27 years) | rel=r_associated | relid=0 | w=34
  1073. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:adult onset (mean 30 years, range 10-65 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (mean 30 years, range 10-65 years) | rel=r_associated | relid=0 | w=34
  1074. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:adult onset (range 12 to 59 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (range 12 to 59 years) | rel=r_associated | relid=0 | w=34
  1075. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:adult onset (range 45 to 70 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (range 45 to 70 years) | rel=r_associated | relid=0 | w=34
  1076. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:adult onset (wide range of age)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (wide range of age) | rel=r_associated | relid=0 | w=34
  1077. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:adult onset after puberty
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset after puberty | rel=r_associated | relid=0 | w=34
  1078. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:adult onset has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset has been reported | rel=r_associated | relid=0 | w=34
  1079. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:adult-onset is referred to as small fiber neuropathy
    n1=en:incidence of 1 in 250,000 births | n2=en:adult-onset is referred to as small fiber neuropathy | rel=r_associated | relid=0 | w=34
  1080. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:affected females have been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:affected females have been reported | rel=r_associated | relid=0 | w=34
  1081. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:affected infants appear normal at birth
    n1=en:incidence of 1 in 250,000 births | n2=en:affected infants appear normal at birth | rel=r_associated | relid=0 | w=34
  1082. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:affected males have normal pubertal development and are fertile
    n1=en:incidence of 1 in 250,000 births | n2=en:affected males have normal pubertal development and are fertile | rel=r_associated | relid=0 | w=34
  1083. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:age at first pregnancy:time:point in time:^patient:quantitative
    n1=en:incidence of 1 in 250,000 births | n2=en:age at first pregnancy:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=34
  1084. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:age at onset 15 to 33 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age at onset 15 to 33 years | rel=r_associated | relid=0 | w=34
  1085. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:age at onset 8 to 55 years (mean 40 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:age at onset 8 to 55 years (mean 40 years) | rel=r_associated | relid=0 | w=34
  1086. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:age of onset 2-8 months
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset 2-8 months | rel=r_associated | relid=0 | w=34
  1087. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:age of onset 20-65 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset 20-65 years | rel=r_associated | relid=0 | w=34
  1088. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:age of onset 43-64 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset 43-64 years | rel=r_associated | relid=0 | w=34
  1089. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:age of onset usually 1 week to 2 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset usually 1 week to 2 years | rel=r_associated | relid=0 | w=34
  1090. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:all reported mutations have occurred de novo (last curated december 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:all reported mutations have occurred de novo (last curated december 2014) | rel=r_associated | relid=0 | w=34
  1091. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:allelic disorder to a form of dilated cardiomyopathy (cmd1g, 604145)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to a form of dilated cardiomyopathy (cmd1g, 604145) | rel=r_associated | relid=0 | w=34
  1092. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:allelic disorder to androgen insensitivity syndrome (ais, 300068)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to androgen insensitivity syndrome (ais, 300068) | rel=r_associated | relid=0 | w=34
  1093. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:allelic disorder to ankyloblepharon-ectodermal defects, cleft lip/palate syndrome (aec, 106260)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to ankyloblepharon-ectodermal defects, cleft lip/palate syndrome (aec, 106260) | rel=r_associated | relid=0 | w=34
  1094. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:allelic disorder to autosomal dominant optic atrophy and cataract (165300)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to autosomal dominant optic atrophy and cataract (165300) | rel=r_associated | relid=0 | w=34
  1095. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:allelic disorder to dilated cardiomyopathy 1n (cmd1n, 607487)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to dilated cardiomyopathy 1n (cmd1n, 607487) | rel=r_associated | relid=0 | w=34
  1096. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:allelic disorder to familial hypertrophic cardiomyopathy (cmh, 192600) and laing distal myopathy (160500)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to familial hypertrophic cardiomyopathy (cmh, 192600) and laing distal myopathy (160500) | rel=r_associated | relid=0 | w=34
  1097. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500) | rel=r_associated | relid=0 | w=34
  1098. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:allelic disorder to rett syndrome (312750)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to rett syndrome (312750) | rel=r_associated | relid=0 | w=34
  1099. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:allelic disorder to rigid spine muscular dystrophy (rsmd1, 602771)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to rigid spine muscular dystrophy (rsmd1, 602771) | rel=r_associated | relid=0 | w=34
  1100. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:allelic disorder to split-hand/foot malformation 4 (shfm4, 605289)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to split-hand/foot malformation 4 (shfm4, 605289) | rel=r_associated | relid=0 | w=34
  1101. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:allelic disorder to t cell-negative, b cell-negative, nk cell- negative scid (601457), which is more severe
    n1=en:incidence of 1 in 250,000 births | 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=34
  1102. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:allelic disorder to the zlotogora-ogur syndrome (225000)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to the zlotogora-ogur syndrome (225000) | rel=r_associated | relid=0 | w=34
  1103. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:allelic disorders with clinical overlap include dss and cmt1b (118200)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorders with clinical overlap include dss and cmt1b (118200) | rel=r_associated | relid=0 | w=34
  1104. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:allelic disorders with overlapping phenotypes include congenital hypomyelinating neuropathy (chn, 605253) and dejerine-sottas syndrome (dss, 145900)
    n1=en:incidence of 1 in 250,000 births | 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=34
  1105. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> 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:incidence of 1 in 250,000 births | 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=34
  1106. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:allelic to deafness, autosomal recessive 12 (601386)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to deafness, autosomal recessive 12 (601386) | rel=r_associated | relid=0 | w=34
  1107. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:allelic to infantile sialic acid storage disorder (269920)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to infantile sialic acid storage disorder (269920) | rel=r_associated | relid=0 | w=34
  1108. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:allelic to noonan syndrome (163950)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to noonan syndrome (163950) | rel=r_associated | relid=0 | w=34
  1109. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> 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:incidence of 1 in 250,000 births | 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=34
  1110. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:allelic to tyrosinemia, type iii (276720)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to tyrosinemia, type iii (276720) | rel=r_associated | relid=0 | w=34
  1111. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:allelic to wiskott-aldrich syndrome (301000) and severe congenital x-linked neutropenia (300299)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to wiskott-aldrich syndrome (301000) and severe congenital x-linked neutropenia (300299) | rel=r_associated | relid=0 | w=34
  1112. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:allelic to wiskott-aldrich syndrome (301000) and x-linked thrombocytopenia (313900)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to wiskott-aldrich syndrome (301000) and x-linked thrombocytopenia (313900) | rel=r_associated | relid=0 | w=34
  1113. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:allelic with cone-rod dystrophy 10 (610283)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic with cone-rod dystrophy 10 (610283) | rel=r_associated | relid=0 | w=34
  1114. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:alopecia may spontaneously regress, become chronic, or spread diffusely
    n1=en:incidence of 1 in 250,000 births | n2=en:alopecia may spontaneously regress, become chronic, or spread diffusely | rel=r_associated | relid=0 | w=34
  1115. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:ambulation difficulty
    n1=en:incidence of 1 in 250,000 births | n2=en:ambulation difficulty | rel=r_associated | relid=0 | w=34
  1116. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:ambulation is usually maintained during adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:ambulation is usually maintained during adulthood | rel=r_associated | relid=0 | w=34
  1117. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:amelioration with age
    n1=en:incidence of 1 in 250,000 births | n2=en:amelioration with age | rel=r_associated | relid=0 | w=34
  1118. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:anemia is transfusion-dependent
    n1=en:incidence of 1 in 250,000 births | n2=en:anemia is transfusion-dependent | rel=r_associated | relid=0 | w=34
  1119. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:antibodies can develop after pregnancy or transfusion
    n1=en:incidence of 1 in 250,000 births | n2=en:antibodies can develop after pregnancy or transfusion | rel=r_associated | relid=0 | w=34
  1120. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines)
    n1=en:incidence of 1 in 250,000 births | n2=en:anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines) | rel=r_associated | relid=0 | w=34
  1121. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:anticonvulsants are effective one family of thai origin has been reported (last curated march 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:anticonvulsants are effective one family of thai origin has been reported (last curated march 2013) | rel=r_associated | relid=0 | w=34
  1122. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:approximately half of cases are due to unbalanced rearrangements, which may be familial
    n1=en:incidence of 1 in 250,000 births | n2=en:approximately half of cases are due to unbalanced rearrangements, which may be familial | rel=r_associated | relid=0 | w=34
  1123. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:approximately half of the mutations are de novo
    n1=en:incidence of 1 in 250,000 births | n2=en:approximately half of the mutations are de novo | rel=r_associated | relid=0 | w=34
  1124. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:arteriovenous malformations can occur throughout the body
    n1=en:incidence of 1 in 250,000 births | n2=en:arteriovenous malformations can occur throughout the body | rel=r_associated | relid=0 | w=34
  1125. en:incidence of 1 in 250,000 births -- 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:incidence of 1 in 250,000 births | 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
  1126. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:asymptomatic younger patients show characteristic basal ganglia calcifications
    n1=en:incidence of 1 in 250,000 births | n2=en:asymptomatic younger patients show characteristic basal ganglia calcifications | rel=r_associated | relid=0 | w=34
  1127. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:attacks are not responsive to acetazolamide
    n1=en:incidence of 1 in 250,000 births | n2=en:attacks are not responsive to acetazolamide | rel=r_associated | relid=0 | w=34
  1128. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:attacks typically last for minutes
    n1=en:incidence of 1 in 250,000 births | n2=en:attacks typically last for minutes | rel=r_associated | relid=0 | w=34
  1129. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:autosomal dominant inheritance has been reported in a single family
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal dominant inheritance has been reported in a single family | rel=r_associated | relid=0 | w=34
  1130. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:autosomal recessive inheritance can occur
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal recessive inheritance can occur | rel=r_associated | relid=0 | w=34
  1131. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:autosomal recessive inheritance is most common
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal recessive inheritance is most common | rel=r_associated | relid=0 | w=34
  1132. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:average age at onset between 40 and 50 years
    n1=en:incidence of 1 in 250,000 births | n2=en:average age at onset between 40 and 50 years | rel=r_associated | relid=0 | w=34
  1133. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:average age of onset 6 months (range birth - 2 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:average age of onset 6 months (range birth - 2 years) | rel=r_associated | relid=0 | w=34
  1134. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:average onset 6-10 months (range 3-24)
    n1=en:incidence of 1 in 250,000 births | n2=en:average onset 6-10 months (range 3-24) | rel=r_associated | relid=0 | w=34
  1135. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:basal metabolic rate index:arbitrary concentration:point in time:^patient:quantitative
    n1=en:incidence of 1 in 250,000 births | n2=en:basal metabolic rate index:arbitrary concentration:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=34
  1136. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:based on report of 1 consanguineous turkish family (last curated june 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on report of 1 consanguineous turkish family (last curated june 2014) | rel=r_associated | relid=0 | w=34
  1137. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:based on report of 1 family (last curated january 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on report of 1 family (last curated january 2014) | rel=r_associated | relid=0 | w=34
  1138. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:begins as focal dystonia, later becomes segmental or generalized
    n1=en:incidence of 1 in 250,000 births | n2=en:begins as focal dystonia, later becomes segmental or generalized | rel=r_associated | relid=0 | w=34
  1139. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years) | rel=r_associated | relid=0 | w=34
  1140. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:bleeding episodes occur early in life and may disappear with age
    n1=en:incidence of 1 in 250,000 births | n2=en:bleeding episodes occur early in life and may disappear with age | rel=r_associated | relid=0 | w=34
  1141. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:bleeding is usually delayed-onset after challenge
    n1=en:incidence of 1 in 250,000 births | n2=en:bleeding is usually delayed-onset after challenge | rel=r_associated | relid=0 | w=34
  1142. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:blood glucose monitor with integrated voice synthesizer
    n1=en:incidence of 1 in 250,000 births | n2=en:blood glucose monitor with integrated voice synthesizer | rel=r_associated | relid=0 | w=34
  1143. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:bone changes tend to develop after first decade
    n1=en:incidence of 1 in 250,000 births | n2=en:bone changes tend to develop after first decade | rel=r_associated | relid=0 | w=34
  1144. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:both demyelinating and axonal features
    n1=en:incidence of 1 in 250,000 births | n2=en:both demyelinating and axonal features | rel=r_associated | relid=0 | w=34
  1145. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:both recessive and dominant inheritance have been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:both recessive and dominant inheritance have been reported | rel=r_associated | relid=0 | w=34
  1146. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:broad range in severity of presentation in sibships
    n1=en:incidence of 1 in 250,000 births | n2=en:broad range in severity of presentation in sibships | rel=r_associated | relid=0 | w=34
  1147. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:c10orf2 mutations account for approximately 35% of all peo cases
    n1=en:incidence of 1 in 250,000 births | n2=en:c10orf2 mutations account for approximately 35% of all peo cases | rel=r_associated | relid=0 | w=34
  1148. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:c3hex (cis-3-hexen-1-ol) is commonly associated with sensory characteristics such as 'green' and 'grassy'
    n1=en:incidence of 1 in 250,000 births | 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=34
  1149. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:can be caused by mutations in nuclear-encoded or mitochondrial-encoded genes
    n1=en:incidence of 1 in 250,000 births | n2=en:can be caused by mutations in nuclear-encoded or mitochondrial-encoded genes | rel=r_associated | relid=0 | w=34
  1150. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:carrier females may present with postpartum hyperammonemia
    n1=en:incidence of 1 in 250,000 births | n2=en:carrier females may present with postpartum hyperammonemia | rel=r_associated | relid=0 | w=34
  1151. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:carrier frequency 1:700 in bukhara jewish populations
    n1=en:incidence of 1 in 250,000 births | n2=en:carrier frequency 1:700 in bukhara jewish populations | rel=r_associated | relid=0 | w=34
  1152. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:carrier frequency in finland 1/40
    n1=en:incidence of 1 in 250,000 births | n2=en:carrier frequency in finland 1/40 | rel=r_associated | relid=0 | w=34
  1153. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:carrier males are unaffected except for psychiatric/behavioral abnormalities
    n1=en:incidence of 1 in 250,000 births | n2=en:carrier males are unaffected except for psychiatric/behavioral abnormalities | rel=r_associated | relid=0 | w=34
  1154. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:cataracts are progressive but may vary between eyes of an individual
    n1=en:incidence of 1 in 250,000 births | n2=en:cataracts are progressive but may vary between eyes of an individual | rel=r_associated | relid=0 | w=34
  1155. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:cataracts may be subclinical in some patients
    n1=en:incidence of 1 in 250,000 births | n2=en:cataracts may be subclinical in some patients | rel=r_associated | relid=0 | w=34
  1156. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24
    n1=en:incidence of 1 in 250,000 births | n2=en:caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24 | rel=r_associated | relid=0 | w=34
  1157. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:cerebellar ataxia shows onset in young adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:cerebellar ataxia shows onset in young adulthood | rel=r_associated | relid=0 | w=34
  1158. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:childhood or adolescent onset (usually less than 25 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:childhood or adolescent onset (usually less than 25 years) | rel=r_associated | relid=0 | w=34
  1159. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:chronic course with exacerbations and remissions
    n1=en:incidence of 1 in 250,000 births | n2=en:chronic course with exacerbations and remissions | rel=r_associated | relid=0 | w=34
  1160. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:clinical features based on 1 reported family (last curated august 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:clinical features based on 1 reported family (last curated august 2013) | rel=r_associated | relid=0 | w=34
  1161. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:clinical presentation varies
    n1=en:incidence of 1 in 250,000 births | n2=en:clinical presentation varies | rel=r_associated | relid=0 | w=34
  1162. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:clinical presentation varies from asymptomatic to fulminant course
    n1=en:incidence of 1 in 250,000 births | n2=en:clinical presentation varies from asymptomatic to fulminant course | rel=r_associated | relid=0 | w=34
  1163. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:clinically classified into classic, atypical, and intermediate phenotypes
    n1=en:incidence of 1 in 250,000 births | n2=en:clinically classified into classic, atypical, and intermediate phenotypes | rel=r_associated | relid=0 | w=34
  1164. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:coagulation specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
    n1=en:incidence of 1 in 250,000 births | 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=34
  1165. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:colchicine treatment is not effective
    n1=en:incidence of 1 in 250,000 births | n2=en:colchicine treatment is not effective | rel=r_associated | relid=0 | w=34
  1166. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:complicated and pure forms
    n1=en:incidence of 1 in 250,000 births | n2=en:complicated and pure forms | rel=r_associated | relid=0 | w=34
  1167. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:congenital abnormality
    n1=en:incidence of 1 in 250,000 births | n2=en:congenital abnormality | rel=r_associated | relid=0 | w=34
  1168. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:considered part of a spectrum of leber hereditary optic atrophy (lhon, 535000)
    n1=en:incidence of 1 in 250,000 births | n2=en:considered part of a spectrum of leber hereditary optic atrophy (lhon, 535000) | rel=r_associated | relid=0 | w=34
  1169. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:contiguous gene deletion syndrome at chromosome 6p
    n1=en:incidence of 1 in 250,000 births | n2=en:contiguous gene deletion syndrome at chromosome 6p | rel=r_associated | relid=0 | w=34
  1170. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:corneal diameter decreases with decreasing axial length
    n1=en:incidence of 1 in 250,000 births | n2=en:corneal diameter decreases with decreasing axial length | rel=r_associated | relid=0 | w=34
  1171. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:corneal steepening is proportional to the degree of axial foreshortening
    n1=en:incidence of 1 in 250,000 births | n2=en:corneal steepening is proportional to the degree of axial foreshortening | rel=r_associated | relid=0 | w=34
  1172. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:crash is an acronym for corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus which encompasses all l1cam diseases
    n1=en:incidence of 1 in 250,000 births | 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=34
  1173. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:currarino triad includes - hemisacrum, presacral mass (anterior meningocele, enteric cyst, and/or presacral teratoma) and anorectal anomalies
    n1=en:incidence of 1 in 250,000 births | 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=34
  1174. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:d-hus is usually familial
    n1=en:incidence of 1 in 250,000 births | n2=en:d-hus is usually familial | rel=r_associated | relid=0 | w=34
  1175. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:de novo mutation
    n1=en:incidence of 1 in 250,000 births | n2=en:de novo mutation | rel=r_associated | relid=0 | w=34
  1176. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:death at birth or within first 2 years of life (severe form)
    n1=en:incidence of 1 in 250,000 births | n2=en:death at birth or within first 2 years of life (severe form) | rel=r_associated | relid=0 | w=34
  1177. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:death due to respiratory failure or infection
    n1=en:incidence of 1 in 250,000 births | n2=en:death due to respiratory failure or infection | rel=r_associated | relid=0 | w=34
  1178. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:death due to respiratory insufficiency within minutes to hours after birth
    n1=en:incidence of 1 in 250,000 births | n2=en:death due to respiratory insufficiency within minutes to hours after birth | rel=r_associated | relid=0 | w=34
  1179. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:death in childhood may occur due to infection
    n1=en:incidence of 1 in 250,000 births | n2=en:death in childhood may occur due to infection | rel=r_associated | relid=0 | w=34
  1180. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:death in the first years of life
    n1=en:incidence of 1 in 250,000 births | n2=en:death in the first years of life | rel=r_associated | relid=0 | w=34
  1181. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:death in third or fourth decades, usually due to respiratory infection
    n1=en:incidence of 1 in 250,000 births | n2=en:death in third or fourth decades, usually due to respiratory infection | rel=r_associated | relid=0 | w=34
  1182. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:death in utero or in the perinatal period
    n1=en:incidence of 1 in 250,000 births | n2=en:death in utero or in the perinatal period | rel=r_associated | relid=0 | w=34
  1183. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:death may occur in the first decade
    n1=en:incidence of 1 in 250,000 births | n2=en:death may occur in the first decade | rel=r_associated | relid=0 | w=34
  1184. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:death occurs 5 to 10 years after onset
    n1=en:incidence of 1 in 250,000 births | n2=en:death occurs 5 to 10 years after onset | rel=r_associated | relid=0 | w=34
  1185. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:death often in early infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:death often in early infancy | rel=r_associated | relid=0 | w=34
  1186. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:death often in first months of life
    n1=en:incidence of 1 in 250,000 births | n2=en:death often in first months of life | rel=r_associated | relid=0 | w=34
  1187. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:death often occurs during metabolic/acidotic crisis
    n1=en:incidence of 1 in 250,000 births | n2=en:death often occurs during metabolic/acidotic crisis | rel=r_associated | relid=0 | w=34
  1188. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:death usually in infancy due to respiratory failure
    n1=en:incidence of 1 in 250,000 births | n2=en:death usually in infancy due to respiratory failure | rel=r_associated | relid=0 | w=34
  1189. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:death usually in newborn period or infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:death usually in newborn period or infancy | rel=r_associated | relid=0 | w=34
  1190. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:death usually occurs in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:death usually occurs in childhood | rel=r_associated | relid=0 | w=34
  1191. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:death within first year of life
    n1=en:incidence of 1 in 250,000 births | n2=en:death within first year of life | rel=r_associated | relid=0 | w=34
  1192. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:decreased bilirubin concentration with phenobarbital administration
    n1=en:incidence of 1 in 250,000 births | n2=en:decreased bilirubin concentration with phenobarbital administration | rel=r_associated | relid=0 | w=34
  1193. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:defect in tetrahydrobiopterin (bh4) synthesis
    n1=en:incidence of 1 in 250,000 births | n2=en:defect in tetrahydrobiopterin (bh4) synthesis | rel=r_associated | relid=0 | w=34
  1194. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:described in families from galicia, spain
    n1=en:incidence of 1 in 250,000 births | n2=en:described in families from galicia, spain | rel=r_associated | relid=0 | w=34
  1195. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:discordant phenotype among monozygotic twins has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:discordant phenotype among monozygotic twins has been reported | rel=r_associated | relid=0 | w=34
  1196. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:disproportionately short limbs often noted at birth
    n1=en:incidence of 1 in 250,000 births | n2=en:disproportionately short limbs often noted at birth | rel=r_associated | relid=0 | w=34
  1197. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:distinct disorder from autosomal dominant hyper ige syndrome (147060)
    n1=en:incidence of 1 in 250,000 births | n2=en:distinct disorder from autosomal dominant hyper ige syndrome (147060) | rel=r_associated | relid=0 | w=34
  1198. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:distinct disorder from transient neonatal hyperthyroidism due to maternal graves disease (see 275000)
    n1=en:incidence of 1 in 250,000 births | n2=en:distinct disorder from transient neonatal hyperthyroidism due to maternal graves disease (see 275000) | rel=r_associated | relid=0 | w=34
  1199. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:does not lead to hepatic failure
    n1=en:incidence of 1 in 250,000 births | n2=en:does not lead to hepatic failure | rel=r_associated | relid=0 | w=34
  1200. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:dramatic late catch-up growth occurs in adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:dramatic late catch-up growth occurs in adolescence | rel=r_associated | relid=0 | w=34
  1201. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:dysmorphic facial features are subtle
    n1=en:incidence of 1 in 250,000 births | n2=en:dysmorphic facial features are subtle | rel=r_associated | relid=0 | w=34
  1202. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:dysmorphic features were only reported in 1 patient
    n1=en:incidence of 1 in 250,000 births | n2=en:dysmorphic features were only reported in 1 patient | rel=r_associated | relid=0 | w=34
  1203. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:earlier onset associated with faster progression and shorter life span
    n1=en:incidence of 1 in 250,000 births | n2=en:earlier onset associated with faster progression and shorter life span | rel=r_associated | relid=0 | w=34
  1204. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:earlier onset associated with increased severity
    n1=en:incidence of 1 in 250,000 births | n2=en:earlier onset associated with increased severity | rel=r_associated | relid=0 | w=34
  1205. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:early adult onset has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:early adult onset has been reported | rel=r_associated | relid=0 | w=34
  1206. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:early onset (9-48 years, but reported up to 68 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:early onset (9-48 years, but reported up to 68 years) | rel=r_associated | relid=0 | w=34
  1207. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:early-onset associated with more severe course and early death
    n1=en:incidence of 1 in 250,000 births | n2=en:early-onset associated with more severe course and early death | rel=r_associated | relid=0 | w=34
  1208. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:echocardiogram and ophthalmologic examination normal
    n1=en:incidence of 1 in 250,000 births | n2=en:echocardiogram and ophthalmologic examination normal | rel=r_associated | relid=0 | w=34
  1209. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood | rel=r_associated | relid=0 | w=34
  1210. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:elevated body temperatures to 42 degrees celsius
    n1=en:incidence of 1 in 250,000 births | n2=en:elevated body temperatures to 42 degrees celsius | rel=r_associated | relid=0 | w=34
  1211. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:encephalopathic episodes associated with increased serum and csf lactate
    n1=en:incidence of 1 in 250,000 births | n2=en:encephalopathic episodes associated with increased serum and csf lactate | rel=r_associated | relid=0 | w=34
  1212. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:endocrine abnormalities confined to kidney
    n1=en:incidence of 1 in 250,000 births | n2=en:endocrine abnormalities confined to kidney | rel=r_associated | relid=0 | w=34
  1213. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:endocrine defects evolve over time
    n1=en:incidence of 1 in 250,000 births | n2=en:endocrine defects evolve over time | rel=r_associated | relid=0 | w=34
  1214. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:enterocolitis tends to remit with age
    n1=en:incidence of 1 in 250,000 births | n2=en:enterocolitis tends to remit with age | rel=r_associated | relid=0 | w=34
  1215. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:epilepsy with grand mal seizures on awakening (egma, 607628)
    n1=en:incidence of 1 in 250,000 births | n2=en:epilepsy with grand mal seizures on awakening (egma, 607628) | rel=r_associated | relid=0 | w=34
  1216. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:episodes occur 30 minutes to 3 hours after exposure to cold
    n1=en:incidence of 1 in 250,000 births | n2=en:episodes occur 30 minutes to 3 hours after exposure to cold | rel=r_associated | relid=0 | w=34
  1217. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:estimated gene carrier frequency of 1 in 5,000
    n1=en:incidence of 1 in 250,000 births | n2=en:estimated gene carrier frequency of 1 in 5,000 | rel=r_associated | relid=0 | w=34
  1218. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:exacerbation of symptoms during or after pregnancy
    n1=en:incidence of 1 in 250,000 births | n2=en:exacerbation of symptoms during or after pregnancy | rel=r_associated | relid=0 | w=34
  1219. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:fatal if renal transplant is not performed
    n1=en:incidence of 1 in 250,000 births | n2=en:fatal if renal transplant is not performed | rel=r_associated | relid=0 | w=34
  1220. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:fatal without bone marrow transplantation
    n1=en:incidence of 1 in 250,000 births | n2=en:fatal without bone marrow transplantation | rel=r_associated | relid=0 | w=34
  1221. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:favorable response to treatment with riboflavin
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to treatment with riboflavin | rel=r_associated | relid=0 | w=34
  1222. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:features may be bilateral (15/24) or left side (9/24)
    n1=en:incidence of 1 in 250,000 births | n2=en:features may be bilateral (15/24) or left side (9/24) | rel=r_associated | relid=0 | w=34
  1223. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:female carriers are unaffected or show neuropsychiatric features
    n1=en:incidence of 1 in 250,000 births | n2=en:female carriers are unaffected or show neuropsychiatric features | rel=r_associated | relid=0 | w=34
  1224. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:females demonstrate lyonization with corresponding phenotypic variation
    n1=en:incidence of 1 in 250,000 births | n2=en:females demonstrate lyonization with corresponding phenotypic variation | rel=r_associated | relid=0 | w=34
  1225. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:females tend to have earlier onset
    n1=en:incidence of 1 in 250,000 births | n2=en:females tend to have earlier onset | rel=r_associated | relid=0 | w=34
  1226. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:first described in acadian population of louisiana
    n1=en:incidence of 1 in 250,000 births | n2=en:first described in acadian population of louisiana | rel=r_associated | relid=0 | w=34
  1227. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:for similar autosomal dominant form, see 162350
    n1=en:incidence of 1 in 250,000 births | n2=en:for similar autosomal dominant form, see 162350 | rel=r_associated | relid=0 | w=34
  1228. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year)
    n1=en:incidence of 1 in 250,000 births | n2=en:four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year) | rel=r_associated | relid=0 | w=34
  1229. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:four families have been reported (last curated october 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:four families have been reported (last curated october 2012) | rel=r_associated | relid=0 | w=34
  1230. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:four patients from 3 families have been reported (last curated february 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:four patients from 3 families have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=34
  1231. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:four patients from 3 families have been reported (last curated february 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:four patients from 3 families have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=34
  1232. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:fracture frequency increases after menopause and in men ages 60-80
    n1=en:incidence of 1 in 250,000 births | n2=en:fracture frequency increases after menopause and in men ages 60-80 | rel=r_associated | relid=0 | w=34
  1233. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:fractures occur in first few months, then decrease in frequency and then occur with ambulation
    n1=en:incidence of 1 in 250,000 births | n2=en:fractures occur in first few months, then decrease in frequency and then occur with ambulation | rel=r_associated | relid=0 | w=34
  1234. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:frequent neonatal sudden death
    n1=en:incidence of 1 in 250,000 births | n2=en:frequent neonatal sudden death | rel=r_associated | relid=0 | w=34
  1235. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:frontometaphyseal dysplasia (fmd, 305620) is an allelic disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:frontometaphyseal dysplasia (fmd, 305620) is an allelic disorder | rel=r_associated | relid=0 | w=34
  1236. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:gastrointestinal anomalies are not always present
    n1=en:incidence of 1 in 250,000 births | n2=en:gastrointestinal anomalies are not always present | rel=r_associated | relid=0 | w=34
  1237. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see 304800)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see 304800) | rel=r_associated | relid=0 | w=34
  1238. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see 610168)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see 610168) | rel=r_associated | relid=0 | w=34
  1239. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see cms1a1, 605809)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see cms1a1, 605809) | rel=r_associated | relid=0 | w=34
  1240. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see cmt4b2, 604563)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see cmt4b2, 604563) | rel=r_associated | relid=0 | w=34
  1241. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see edm2 600204, edm3 600969, edm4 226900, edm5 607078)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see edm2 600204, edm3 600969, edm4 226900, edm5 607078) | rel=r_associated | relid=0 | w=34
  1242. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see hht1, 187300)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see hht1, 187300) | rel=r_associated | relid=0 | w=34
  1243. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see madb, 608612)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see madb, 608612) | rel=r_associated | relid=0 | w=34
  1244. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see npc2, 607625)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see npc2, 607625) | rel=r_associated | relid=0 | w=34
  1245. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see pfic1, 211600)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see pfic1, 211600) | rel=r_associated | relid=0 | w=34
  1246. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see ppr2, 609572 and ppr3, 609573)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see ppr2, 609572 and ppr3, 609573) | rel=r_associated | relid=0 | w=34
  1247. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see rmd, 606072)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see rmd, 606072) | rel=r_associated | relid=0 | w=34
  1248. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see rmd1, 600332)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see rmd1, 600332) | rel=r_associated | relid=0 | w=34
  1249. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see sca1, 164000)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see sca1, 164000) | rel=r_associated | relid=0 | w=34
  1250. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity, see evr2 (305390), evr3 (605750), and evr4 (601813)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity, see evr2 (305390), evr3 (605750), and evr4 (601813) | rel=r_associated | relid=0 | w=34
  1251. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:good response to vitamin b12 therapy 'variant 1' has isolated homocystinuria and decreased mecbl
    n1=en:incidence of 1 in 250,000 births | n2=en:good response to vitamin b12 therapy 'variant 1' has isolated homocystinuria and decreased mecbl | rel=r_associated | relid=0 | w=34
  1252. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:group a, found in north american indians, has lactic acidosis and psychomotor retardation
    n1=en:incidence of 1 in 250,000 births | n2=en:group a, found in north american indians, has lactic acidosis and psychomotor retardation | rel=r_associated | relid=0 | w=34
  1253. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:group b, found in france and united kingdom, severe phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:group b, found in france and united kingdom, severe phenotype | rel=r_associated | relid=0 | w=34
  1254. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:growth retardation onset in utero
    n1=en:incidence of 1 in 250,000 births | n2=en:growth retardation onset in utero | rel=r_associated | relid=0 | w=34
  1255. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:hair may normalize at puberty
    n1=en:incidence of 1 in 250,000 births | n2=en:hair may normalize at puberty | rel=r_associated | relid=0 | w=34
  1256. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:hair regrowth may occur later in life
    n1=en:incidence of 1 in 250,000 births | n2=en:hair regrowth may occur later in life | rel=r_associated | relid=0 | w=34
  1257. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:hair, nails, and teeth are normal
    n1=en:incidence of 1 in 250,000 births | n2=en:hair, nails, and teeth are normal | rel=r_associated | relid=0 | w=34
  1258. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:hairy elbows become apparent in infancy and regress during adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:hairy elbows become apparent in infancy and regress during adolescence | rel=r_associated | relid=0 | w=34
  1259. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:hands clenched at birth but loosen in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:hands clenched at birth but loosen in infancy | rel=r_associated | relid=0 | w=34
  1260. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:health insurance plan benefits comment:finding:point in time:^patient:narrative
    n1=en:incidence of 1 in 250,000 births | n2=en:health insurance plan benefits comment:finding:point in time:^patient:narrative | rel=r_associated | relid=0 | w=34
  1261. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:hearing loss is variable
    n1=en:incidence of 1 in 250,000 births | n2=en:hearing loss is variable | rel=r_associated | relid=0 | w=34
  1262. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:hepatoerythropoietic porphyria (hep, 176100.0005) is a severe infantile form due to homozygous pct
    n1=en:incidence of 1 in 250,000 births | n2=en:hepatoerythropoietic porphyria (hep, 176100.0005) is a severe infantile form due to homozygous pct | rel=r_associated | relid=0 | w=34
  1263. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol | rel=r_associated | relid=0 | w=34
  1264. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:heterozygotes have milder metabolic defect with increased serum 1,25(oh)2d3 and hypercalciuria, but no bone disease or rickets
    n1=en:incidence of 1 in 250,000 births | 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=34
  1265. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:heterozygous mutation carriers may have late-onset of mild symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygous mutation carriers may have late-onset of mild symptoms | rel=r_associated | relid=0 | w=34
  1266. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:heterozygous mutations reported, see 606609.0006 and 606609.0007
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygous mutations reported, see 606609.0006 and 606609.0007 | rel=r_associated | relid=0 | w=34
  1267. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:high frequency of levodopa-induced dyskinesias
    n1=en:incidence of 1 in 250,000 births | n2=en:high frequency of levodopa-induced dyskinesias | rel=r_associated | relid=0 | w=34
  1268. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:high prevalence in holguin province of cuba
    n1=en:incidence of 1 in 250,000 births | n2=en:high prevalence in holguin province of cuba | rel=r_associated | relid=0 | w=34
  1269. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:high recurrence rate
    n1=en:incidence of 1 in 250,000 births | n2=en:high recurrence rate | rel=r_associated | relid=0 | w=34
  1270. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:higher than expected incidence in identical twins
    n1=en:incidence of 1 in 250,000 births | n2=en:higher than expected incidence in identical twins | rel=r_associated | relid=0 | w=34
  1271. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:highly penetrant, but low morbidity
    n1=en:incidence of 1 in 250,000 births | n2=en:highly penetrant, but low morbidity | rel=r_associated | relid=0 | w=34
  1272. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:highly variable dysmorphic features
    n1=en:incidence of 1 in 250,000 births | n2=en:highly variable dysmorphic features | rel=r_associated | relid=0 | w=34
  1273. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:highly variable expression
    n1=en:incidence of 1 in 250,000 births | n2=en:highly variable expression | rel=r_associated | relid=0 | w=34
  1274. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:highly variable intrafamilial severity
    n1=en:incidence of 1 in 250,000 births | n2=en:highly variable intrafamilial severity | rel=r_associated | relid=0 | w=34
  1275. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:homozygotes have earlier onset and a more severe disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:homozygotes have earlier onset and a more severe disorder | rel=r_associated | relid=0 | w=34
  1276. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:hyperphagia and weight gain as well as immunologic abnormalities and hypogonadism can be reversed by exogenously administered recombinant leptin
    n1=en:incidence of 1 in 250,000 births | 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=34
  1277. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:icelandic families
    n1=en:incidence of 1 in 250,000 births | n2=en:icelandic families | rel=r_associated | relid=0 | w=34
  1278. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities
    n1=en:incidence of 1 in 250,000 births | n2=en:in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities | rel=r_associated | relid=0 | w=34
  1279. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:in the absence of hydrops, death occurs within 3 months
    n1=en:incidence of 1 in 250,000 births | n2=en:in the absence of hydrops, death occurs within 3 months | rel=r_associated | relid=0 | w=34
  1280. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:incidence 1 in 6,000 to 1 in 8,000 live births
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence 1 in 6,000 to 1 in 8,000 live births | rel=r_associated | relid=0 | w=34
  1281. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:incidence 7-15% in pacific island populations
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence 7-15% in pacific island populations | rel=r_associated | relid=0 | w=34
  1282. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:incidence of 1 in 1.5 million births
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 1.5 million births | rel=r_associated | relid=0 | w=34
  1283. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:incidence of mh in anesthetized adults is 1 in 50,000-100,000
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of mh in anesthetized adults is 1 in 50,000-100,000 | rel=r_associated | relid=0 | w=34
  1284. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:incidence, 1 in 650-1000 live births
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence, 1 in 650-1000 live births | rel=r_associated | relid=0 | w=34
  1285. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease
    n1=en:incidence of 1 in 250,000 births | n2=en:incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease | rel=r_associated | relid=0 | w=34
  1286. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:increased frequency in ashkenazi jewish population and in finland
    n1=en:incidence of 1 in 250,000 births | n2=en:increased frequency in ashkenazi jewish population and in finland | rel=r_associated | relid=0 | w=34
  1287. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:increased frequency in ashkenazi jews (carrier frequency 1 in 14)
    n1=en:incidence of 1 in 250,000 births | n2=en:increased frequency in ashkenazi jews (carrier frequency 1 in 14) | rel=r_associated | relid=0 | w=34
  1288. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:increased risk of bilateral breast cancer
    n1=en:incidence of 1 in 250,000 births | n2=en:increased risk of bilateral breast cancer | rel=r_associated | relid=0 | w=34
  1289. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:increased risk of developing multiple primary cancers
    n1=en:incidence of 1 in 250,000 births | n2=en:increased risk of developing multiple primary cancers | rel=r_associated | relid=0 | w=34
  1290. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:increased risk of early death
    n1=en:incidence of 1 in 250,000 births | n2=en:increased risk of early death | rel=r_associated | relid=0 | w=34
  1291. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:jbts shows autosomal dominant inheritance
    n1=en:incidence of 1 in 250,000 births | n2=en:jbts shows autosomal dominant inheritance | rel=r_associated | relid=0 | w=34
  1292. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:kid syndrome and hid syndrome are identical at the molecular level
    n1=en:incidence of 1 in 250,000 births | n2=en:kid syndrome and hid syndrome are identical at the molecular level | rel=r_associated | relid=0 | w=34
  1293. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:laboratory comment:txt:pt:report:nar
    n1=en:incidence of 1 in 250,000 births | n2=en:laboratory comment:txt:pt:report:nar | rel=r_associated | relid=0 | w=34
  1294. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:last name:pn:pt:^guardian or legally authorized representative:nom
    n1=en:incidence of 1 in 250,000 births | n2=en:last name:pn:pt:^guardian or legally authorized representative:nom | rel=r_associated | relid=0 | w=34
  1295. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:later onset has been rarely reported (up to age 68 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:later onset has been rarely reported (up to age 68 years) | rel=r_associated | relid=0 | w=34
  1296. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:later onset may occur (1 to 11 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:later onset may occur (1 to 11 years) | rel=r_associated | relid=0 | w=34
  1297. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:left side involvement associated with serious cardiac defect
    n1=en:incidence of 1 in 250,000 births | n2=en:left side involvement associated with serious cardiac defect | rel=r_associated | relid=0 | w=34
  1298. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:left side involvement more frequent than right side involvement
    n1=en:incidence of 1 in 250,000 births | n2=en:left side involvement more frequent than right side involvement | rel=r_associated | relid=0 | w=34
  1299. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:leg pain during childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:leg pain during childhood | rel=r_associated | relid=0 | w=34
  1300. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:lesions appear in infancy or early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:lesions appear in infancy or early childhood | rel=r_associated | relid=0 | w=34
  1301. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:lesions grow and spread with age
    n1=en:incidence of 1 in 250,000 births | n2=en:lesions grow and spread with age | rel=r_associated | relid=0 | w=34
  1302. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:lethal
    n1=en:incidence of 1 in 250,000 births | n2=en:lethal | rel=r_associated | relid=0 | w=34
  1303. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:lifetime risk of breast cancer in mutation carriers is 80 to 90%
    n1=en:incidence of 1 in 250,000 births | n2=en:lifetime risk of breast cancer in mutation carriers is 80 to 90% | rel=r_associated | relid=0 | w=34
  1304. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:limb-girdle muscular dystrophy 1b (lgmd1b, 159001) is an allelic disorder with an overlapping phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:limb-girdle muscular dystrophy 1b (lgmd1b, 159001) is an allelic disorder with an overlapping phenotype | rel=r_associated | relid=0 | w=34
  1305. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:limb-girdle muscular dystrophy type 2l (lgmd2l, 611307) is an allelic disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:limb-girdle muscular dystrophy type 2l (lgmd2l, 611307) is an allelic disorder | rel=r_associated | relid=0 | w=34
  1306. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:limited clinical information provided for patients with mks1 mutations (last curated october 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:limited clinical information provided for patients with mks1 mutations (last curated october 2014) | rel=r_associated | relid=0 | w=34
  1307. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:low physical performance
    n1=en:incidence of 1 in 250,000 births | n2=en:low physical performance | rel=r_associated | relid=0 | w=34
  1308. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:lymphedema resolves by age 3 years
    n1=en:incidence of 1 in 250,000 births | n2=en:lymphedema resolves by age 3 years | rel=r_associated | relid=0 | w=34
  1309. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:lymphedema that presents at puberty is called meige disease (153200)
    n1=en:incidence of 1 in 250,000 births | n2=en:lymphedema that presents at puberty is called meige disease (153200) | rel=r_associated | relid=0 | w=34
  1310. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:major fetal plasma protein produced by yolk sac and liver
    n1=en:incidence of 1 in 250,000 births | n2=en:major fetal plasma protein produced by yolk sac and liver | rel=r_associated | relid=0 | w=34
  1311. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:majority of cases diagnosed at age 10-15 years
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of cases diagnosed at age 10-15 years | rel=r_associated | relid=0 | w=34
  1312. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:majority of cases in the afrikaner population of south africa
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of cases in the afrikaner population of south africa | rel=r_associated | relid=0 | w=34
  1313. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:majority of patients have normal intelligence
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of patients have normal intelligence | rel=r_associated | relid=0 | w=34
  1314. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:majority of por deficiency patients have an abs-like phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of por deficiency patients have an abs-like phenotype | rel=r_associated | relid=0 | w=34
  1315. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:majority of wws patients die within the first year of life
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of wws patients die within the first year of life | rel=r_associated | relid=0 | w=34
  1316. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:many adults with typical form remain ambulatory
    n1=en:incidence of 1 in 250,000 births | n2=en:many adults with typical form remain ambulatory | rel=r_associated | relid=0 | w=34
  1317. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:many cases result from de novo mutations
    n1=en:incidence of 1 in 250,000 births | n2=en:many cases result from de novo mutations | rel=r_associated | relid=0 | w=34
  1318. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:marked favorable response to l-dopa treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:marked favorable response to l-dopa treatment | rel=r_associated | relid=0 | w=34
  1319. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:may be precipitated by minor illness (e.g., viral infection, fever)
    n1=en:incidence of 1 in 250,000 births | n2=en:may be precipitated by minor illness (e.g., viral infection, fever) | rel=r_associated | relid=0 | w=34
  1320. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:may be same disorder as autosomal recessive optic atrophy 3 (258501)
    n1=en:incidence of 1 in 250,000 births | n2=en:may be same disorder as autosomal recessive optic atrophy 3 (258501) | rel=r_associated | relid=0 | w=34
  1321. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:may be triggered by increased practice
    n1=en:incidence of 1 in 250,000 births | n2=en:may be triggered by increased practice | rel=r_associated | relid=0 | w=34
  1322. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:may be triggered by minor head trauma
    n1=en:incidence of 1 in 250,000 births | n2=en:may be triggered by minor head trauma | rel=r_associated | relid=0 | w=34
  1323. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:may be x-linked
    n1=en:incidence of 1 in 250,000 births | n2=en:may be x-linked | rel=r_associated | relid=0 | w=34
  1324. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:may have less severe phenotype than rsts patients with crebbp mutations
    n1=en:incidence of 1 in 250,000 births | n2=en:may have less severe phenotype than rsts patients with crebbp mutations | rel=r_associated | relid=0 | w=34
  1325. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:may regress
    n1=en:incidence of 1 in 250,000 births | n2=en:may regress | rel=r_associated | relid=0 | w=34
  1326. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:may result in sudden death
    n1=en:incidence of 1 in 250,000 births | n2=en:may result in sudden death | rel=r_associated | relid=0 | w=34
  1327. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:mean age at onset 16.5 years (range 9 to 35 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset 16.5 years (range 9 to 35 years) | rel=r_associated | relid=0 | w=34
  1328. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:mean age at onset 27 years (range 9 to 42)
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset 27 years (range 9 to 42) | rel=r_associated | relid=0 | w=34
  1329. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:mean age at onset 33 years (range 20-60)
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset 33 years (range 20-60) | rel=r_associated | relid=0 | w=34
  1330. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:mean age at onset 66.8 years (range 47-77)
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset 66.8 years (range 47-77) | rel=r_associated | relid=0 | w=34
  1331. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:medial onset of end stage renal disease 13 years
    n1=en:incidence of 1 in 250,000 births | n2=en:medial onset of end stage renal disease 13 years | rel=r_associated | relid=0 | w=34
  1332. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:median age of onset of leukoplakia - 7 years (range 1-26 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:median age of onset of leukoplakia - 7 years (range 1-26 years) | rel=r_associated | relid=0 | w=34
  1333. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:median age of onset of nail dystrophy - 7 years (range 1-6 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:median age of onset of nail dystrophy - 7 years (range 1-6 years) | rel=r_associated | relid=0 | w=34
  1334. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:median survival is > 50 years
    n1=en:incidence of 1 in 250,000 births | n2=en:median survival is > 50 years | rel=r_associated | relid=0 | w=34
  1335. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:mild disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:mild disorder | rel=r_associated | relid=0 | w=34
  1336. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy
    n1=en:incidence of 1 in 250,000 births | n2=en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy | rel=r_associated | relid=0 | w=34
  1337. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia
    n1=en:incidence of 1 in 250,000 births | n2=en:milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia | rel=r_associated | relid=0 | w=34
  1338. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:more common in men than women
    n1=en:incidence of 1 in 250,000 births | n2=en:more common in men than women | rel=r_associated | relid=0 | w=34
  1339. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:more common in women (90%)
    n1=en:incidence of 1 in 250,000 births | n2=en:more common in women (90%) | rel=r_associated | relid=0 | w=34
  1340. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:mosaic distribution of lesions
    n1=en:incidence of 1 in 250,000 births | n2=en:mosaic distribution of lesions | rel=r_associated | relid=0 | w=34
  1341. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:most affected males die of respiratory failure within the first months of life
    n1=en:incidence of 1 in 250,000 births | n2=en:most affected males die of respiratory failure within the first months of life | rel=r_associated | relid=0 | w=34
  1342. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:most patients are asymptomatic and are detected by newborn screening
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients are asymptomatic and are detected by newborn screening | rel=r_associated | relid=0 | w=34
  1343. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:most patients develop symptoms while on prophylactic vitamin d supplementation in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients develop symptoms while on prophylactic vitamin d supplementation in infancy | rel=r_associated | relid=0 | w=34
  1344. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:most patients die in first years of life
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients die in first years of life | rel=r_associated | relid=0 | w=34
  1345. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:most patients do not learn to sit or walk
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients do not learn to sit or walk | rel=r_associated | relid=0 | w=34
  1346. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:most patients have adult onset of symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients have adult onset of symptoms | rel=r_associated | relid=0 | w=34
  1347. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:most patients have pure spastic paraplegia, some have complicated spastic paraplegia
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients have pure spastic paraplegia, some have complicated spastic paraplegia | rel=r_associated | relid=0 | w=34
  1348. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:most patients lose ambulation 2 years after onset
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients lose ambulation 2 years after onset | rel=r_associated | relid=0 | w=34
  1349. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:most patients require liver transplantation within the first year of life
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients require liver transplantation within the first year of life | rel=r_associated | relid=0 | w=34
  1350. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:mother had rubella infection during pregnancy with daughter
    n1=en:incidence of 1 in 250,000 births | n2=en:mother had rubella infection during pregnancy with daughter | rel=r_associated | relid=0 | w=34
  1351. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:multiple spontaneous abortions in obligate carriers
    n1=en:incidence of 1 in 250,000 births | n2=en:multiple spontaneous abortions in obligate carriers | rel=r_associated | relid=0 | w=34
  1352. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:myelodysplastic syndrome developed in 1 of 12 mutation-positive patients
    n1=en:incidence of 1 in 250,000 births | n2=en:myelodysplastic syndrome developed in 1 of 12 mutation-positive patients | rel=r_associated | relid=0 | w=34
  1353. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses)
    n1=en:incidence of 1 in 250,000 births | n2=en:name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses) | rel=r_associated | relid=0 | w=34
  1354. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:nearly 100% penetrance by 60 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:nearly 100% penetrance by 60 years of age | rel=r_associated | relid=0 | w=34
  1355. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:neonatal sepsis
    n1=en:incidence of 1 in 250,000 births | n2=en:neonatal sepsis | rel=r_associated | relid=0 | w=34
  1356. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:neurologic findings closely resemble those of huntington disease (hd, 143100)
    n1=en:incidence of 1 in 250,000 births | n2=en:neurologic findings closely resemble those of huntington disease (hd, 143100) | rel=r_associated | relid=0 | w=34
  1357. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:neurologic symptoms are progressive
    n1=en:incidence of 1 in 250,000 births | n2=en:neurologic symptoms are progressive | rel=r_associated | relid=0 | w=34
  1358. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:neurologic symptoms may occur after trauma
    n1=en:incidence of 1 in 250,000 births | n2=en:neurologic symptoms may occur after trauma | rel=r_associated | relid=0 | w=34
  1359. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:neuropathic, cardiac, leptomeningeal, and ocular predominance may occur
    n1=en:incidence of 1 in 250,000 births | n2=en:neuropathic, cardiac, leptomeningeal, and ocular predominance may occur | rel=r_associated | relid=0 | w=34
  1360. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:nine patients have been reported in detail (as of 14 june 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:nine patients have been reported in detail (as of 14 june 2011) | rel=r_associated | relid=0 | w=34
  1361. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:ninety percent of cases are female
    n1=en:incidence of 1 in 250,000 births | n2=en:ninety percent of cases are female | rel=r_associated | relid=0 | w=34
  1362. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:no opportunistic infections
    n1=en:incidence of 1 in 250,000 births | n2=en:no opportunistic infections | rel=r_associated | relid=0 | w=34
  1363. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:non-progressive or very slowly progressive
    n1=en:incidence of 1 in 250,000 births | n2=en:non-progressive or very slowly progressive | rel=r_associated | relid=0 | w=34
  1364. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:nonreflex epilepsy may occur later in 16 to 38% of patients
    n1=en:incidence of 1 in 250,000 births | n2=en:nonreflex epilepsy may occur later in 16 to 38% of patients | rel=r_associated | relid=0 | w=34
  1365. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:normal alleles contain up to 44 repeats
    n1=en:incidence of 1 in 250,000 births | n2=en:normal alleles contain up to 44 repeats | rel=r_associated | relid=0 | w=34
  1366. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:normal cag repeat length is 7 to 32 triplets
    n1=en:incidence of 1 in 250,000 births | n2=en:normal cag repeat length is 7 to 32 triplets | rel=r_associated | relid=0 | w=34
  1367. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe
    n1=en:incidence of 1 in 250,000 births | n2=en:normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe | rel=r_associated | relid=0 | w=34
  1368. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:not all nails are affected in some patients
    n1=en:incidence of 1 in 250,000 births | n2=en:not all nails are affected in some patients | rel=r_associated | relid=0 | w=34
  1369. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:not responsive to steroid treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:not responsive to steroid treatment | rel=r_associated | relid=0 | w=34
  1370. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:obligate female carriers may show mild signs of muscle weakness, especially of the face
    n1=en:incidence of 1 in 250,000 births | n2=en:obligate female carriers may show mild signs of muscle weakness, especially of the face | rel=r_associated | relid=0 | w=34
  1371. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:one 3-generation korean family reported (as of january 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:one 3-generation korean family reported (as of january 2011) | rel=r_associated | relid=0 | w=34
  1372. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:one consanguineous pakistani has been reported (last curated august 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one consanguineous pakistani has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=34
  1373. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:one consanguineous saudi arabian family has been reported (last curated august 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one consanguineous saudi arabian family has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=34
  1374. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:one consanguineous turkish family has been reported (last curated july 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one consanguineous turkish family has been reported (last curated july 2014) | rel=r_associated | relid=0 | w=34
  1375. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:one family from hong kong has been reported (last curated october 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family from hong kong has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=34
  1376. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:one family has been reported (last curated january 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (last curated january 2014) | rel=r_associated | relid=0 | w=34
  1377. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:one family has been reported (last curated november 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (last curated november 2013) | rel=r_associated | relid=0 | w=34
  1378. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:one family has been reported (last curated september 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (last curated september 2014) | rel=r_associated | relid=0 | w=34
  1379. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:one family of algerian descent has been reported (last curated february 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family of algerian descent has been reported (last curated february 2015) | rel=r_associated | relid=0 | w=34
  1380. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:one israeli arab family has been reported with ptprf mutation (last curated september 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one israeli arab family has been reported with ptprf mutation (last curated september 2014) | rel=r_associated | relid=0 | w=34
  1381. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:one large 3-generation irish family has been reported (last curated october 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one large 3-generation irish family has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=34
  1382. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:one patient has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient has been reported | rel=r_associated | relid=0 | w=34
  1383. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:one patient has been reported (as of curation date may, 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient has been reported (as of curation date may, 2013) | rel=r_associated | relid=0 | w=34
  1384. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:one patient has been reported (last curated november 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient has been reported (last curated november 2013) | rel=r_associated | relid=0 | w=34
  1385. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:one patient reported (last curated november 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient reported (last curated november 2013) | rel=r_associated | relid=0 | w=34
  1386. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:one patient reported with slitrk1 mutation (as of january 2010)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient reported with slitrk1 mutation (as of january 2010) | rel=r_associated | relid=0 | w=34
  1387. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:one patient studied at molecular level (as of july 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient studied at molecular level (as of july 2011) | rel=r_associated | relid=0 | w=34
  1388. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:one patient with episodic ataxia and later onset has been reported (as of june 2010)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient with episodic ataxia and later onset has been reported (as of june 2010) | rel=r_associated | relid=0 | w=34
  1389. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:one patient with normal cognition has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient with normal cognition has been reported | rel=r_associated | relid=0 | w=34
  1390. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset 13-15 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset 13-15 years | rel=r_associated | relid=0 | w=34
  1391. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset 20-55 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset 20-55 years of age | rel=r_associated | relid=0 | w=34
  1392. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset 5 to 10 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset 5 to 10 years of age | rel=r_associated | relid=0 | w=34
  1393. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset age 2 to 7 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset age 2 to 7 years | rel=r_associated | relid=0 | w=34
  1394. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset around puberty
    n1=en:incidence of 1 in 250,000 births | n2=en:onset around puberty | rel=r_associated | relid=0 | w=34
  1395. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset at 2 to 4 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset at 2 to 4 years | rel=r_associated | relid=0 | w=34
  1396. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset at 4 to 7 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset at 4 to 7 years | rel=r_associated | relid=0 | w=34
  1397. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset at birth or in first days or life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset at birth or in first days or life | rel=r_associated | relid=0 | w=34
  1398. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset at or soon after birth
    n1=en:incidence of 1 in 250,000 births | n2=en:onset at or soon after birth | rel=r_associated | relid=0 | w=34
  1399. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset before age 20 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset before age 20 years | rel=r_associated | relid=0 | w=34
  1400. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset before age 40 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset before age 40 years | rel=r_associated | relid=0 | w=34
  1401. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset between 15 and 27 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between 15 and 27 years | rel=r_associated | relid=0 | w=34
  1402. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset between 3 and 11 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between 3 and 11 years of age | rel=r_associated | relid=0 | w=34
  1403. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset between 6 and 16 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between 6 and 16 years of age | rel=r_associated | relid=0 | w=34
  1404. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset in childhood (ages 1.5 to 7 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood (ages 1.5 to 7 years) | rel=r_associated | relid=0 | w=34
  1405. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset in early infancy (2 to 3 months of age)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in early infancy (2 to 3 months of age) | rel=r_associated | relid=0 | w=34
  1406. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset in fifties or sixties
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in fifties or sixties | rel=r_associated | relid=0 | w=34
  1407. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset in first 2 decades (range 6 to 15 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in first 2 decades (range 6 to 15 years) | rel=r_associated | relid=0 | w=34
  1408. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset in first 8 weeks of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in first 8 weeks of life | rel=r_associated | relid=0 | w=34
  1409. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset in first decade (e.g. 180380.0028)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in first decade (e.g. 180380.0028) | rel=r_associated | relid=0 | w=34
  1410. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset in infancy or early childhood (before age 3 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in infancy or early childhood (before age 3 years) | rel=r_associated | relid=0 | w=34
  1411. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset in infancy up to 3 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in infancy up to 3 years | rel=r_associated | relid=0 | w=34
  1412. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset in late adulthood (44 to 73 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in late adulthood (44 to 73 years) | rel=r_associated | relid=0 | w=34
  1413. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset in late teens to early forties
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in late teens to early forties | rel=r_associated | relid=0 | w=34
  1414. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset in newborns or infants
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in newborns or infants | rel=r_associated | relid=0 | w=34
  1415. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset in second decade or unilateral involvement indicates a diagnosis of 'progressive cribriform and zosteriform hyperpigmentation' (pczh)
    n1=en:incidence of 1 in 250,000 births | 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=34
  1416. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset in teens to late twenties (range 14 to 44 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in teens to late twenties (range 14 to 44 years) | rel=r_associated | relid=0 | w=34
  1417. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset in the first 2 years of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in the first 2 years of life | rel=r_associated | relid=0 | w=34
  1418. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset in the second to fourth decades of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in the second to fourth decades of life | rel=r_associated | relid=0 | w=34
  1419. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset of arthritis in early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of arthritis in early childhood | rel=r_associated | relid=0 | w=34
  1420. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset of contractures in utero
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of contractures in utero | rel=r_associated | relid=0 | w=34
  1421. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset of crises in early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of crises in early childhood | rel=r_associated | relid=0 | w=34
  1422. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset of disease within the first year of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of disease within the first year of life | rel=r_associated | relid=0 | w=34
  1423. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> 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:incidence of 1 in 250,000 births | 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=34
  1424. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset of edema in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of edema in childhood | rel=r_associated | relid=0 | w=34
  1425. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset of encephalopathy between ages 2 and 3 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of encephalopathy between ages 2 and 3 years | rel=r_associated | relid=0 | w=34
  1426. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset of hearing loss in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of hearing loss in childhood | rel=r_associated | relid=0 | w=34
  1427. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset of hearing loss in childhood (range 7 to 13 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of hearing loss in childhood (range 7 to 13 years) | rel=r_associated | relid=0 | w=34
  1428. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset of hyperuricemia or gout in young adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of hyperuricemia or gout in young adulthood | rel=r_associated | relid=0 | w=34
  1429. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset of lymphedema around puberty
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of lymphedema around puberty | rel=r_associated | relid=0 | w=34
  1430. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset of macrocephaly in the first year of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of macrocephaly in the first year of life | rel=r_associated | relid=0 | w=34
  1431. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset of mental impairment in early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of mental impairment in early childhood | rel=r_associated | relid=0 | w=34
  1432. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset of normal pressure hydrocephalus after age 65 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of normal pressure hydrocephalus after age 65 years | rel=r_associated | relid=0 | w=34
  1433. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years | rel=r_associated | relid=0 | w=34
  1434. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years) | rel=r_associated | relid=0 | w=34
  1435. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset of seizures in first months of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of seizures in first months of life | rel=r_associated | relid=0 | w=34
  1436. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset of seizures in first months of life (usually 4 to 7 months)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of seizures in first months of life (usually 4 to 7 months) | rel=r_associated | relid=0 | w=34
  1437. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset of symptoms in first or second decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of symptoms in first or second decade of life | rel=r_associated | relid=0 | w=34
  1438. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset of symptoms in third to sixth decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of symptoms in third to sixth decade of life | rel=r_associated | relid=0 | w=34
  1439. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset of symptoms often associated with nonspecific febrile illness
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of symptoms often associated with nonspecific febrile illness | rel=r_associated | relid=0 | w=34
  1440. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset precipitated by fasting or illness
    n1=en:incidence of 1 in 250,000 births | n2=en:onset precipitated by fasting or illness | rel=r_associated | relid=0 | w=34
  1441. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset ranges from childhood to adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset ranges from childhood to adulthood | rel=r_associated | relid=0 | w=34
  1442. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset soon after birth
    n1=en:incidence of 1 in 250,000 births | n2=en:onset soon after birth | rel=r_associated | relid=0 | w=34
  1443. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset usually in first year of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in first year of life | rel=r_associated | relid=0 | w=34
  1444. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset usually in second decade of life, although earlier and later onset have been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in second decade of life, although earlier and later onset have been reported | rel=r_associated | relid=0 | w=34
  1445. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset usually in the first 4 years of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in the first 4 years of life | rel=r_associated | relid=0 | w=34
  1446. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset usually in the third decade (range 11 to 50 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in the third decade (range 11 to 50 years) | rel=r_associated | relid=0 | w=34
  1447. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset usually in third decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in third decade of life | rel=r_associated | relid=0 | w=34
  1448. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:onset within first year of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset within first year of life | rel=r_associated | relid=0 | w=34
  1449. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:ossification evident 2-8 months following swelling
    n1=en:incidence of 1 in 250,000 births | n2=en:ossification evident 2-8 months following swelling | rel=r_associated | relid=0 | w=34
  1450. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder with a more severe, frequently lethal phenotype
    n1=en:incidence of 1 in 250,000 births | 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=34
  1451. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:part of 'dent disease complex' (see 300009)
    n1=en:incidence of 1 in 250,000 births | n2=en:part of 'dent disease complex' (see 300009) | rel=r_associated | relid=0 | w=34
  1452. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:partial laminin alpha-2 deficiency results in milder phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:partial laminin alpha-2 deficiency results in milder phenotype | rel=r_associated | relid=0 | w=34
  1453. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:patients are born with normal head circumference
    n1=en:incidence of 1 in 250,000 births | n2=en:patients are born with normal head circumference | rel=r_associated | relid=0 | w=34
  1454. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:patients are often asymptomatic
    n1=en:incidence of 1 in 250,000 births | n2=en:patients are often asymptomatic | rel=r_associated | relid=0 | w=34
  1455. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:patients can be divided into 2 groups based on whether typical hand anomalies are present
    n1=en:incidence of 1 in 250,000 births | n2=en:patients can be divided into 2 groups based on whether typical hand anomalies are present | rel=r_associated | relid=0 | w=34
  1456. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:patients can have als, ftd, or both
    n1=en:incidence of 1 in 250,000 births | n2=en:patients can have als, ftd, or both | rel=r_associated | relid=0 | w=34
  1457. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:patients develop multiple tumors
    n1=en:incidence of 1 in 250,000 births | n2=en:patients develop multiple tumors | rel=r_associated | relid=0 | w=34
  1458. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems
    n1=en:incidence of 1 in 250,000 births | n2=en:patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems | rel=r_associated | relid=0 | w=34
  1459. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both
    n1=en:incidence of 1 in 250,000 births | n2=en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both | rel=r_associated | relid=0 | w=34
  1460. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:patients may have seizures only, dyskinesia only, or both
    n1=en:incidence of 1 in 250,000 births | n2=en:patients may have seizures only, dyskinesia only, or both | rel=r_associated | relid=0 | w=34
  1461. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:patients need lifelong total parenteral nutrition
    n1=en:incidence of 1 in 250,000 births | n2=en:patients need lifelong total parenteral nutrition | rel=r_associated | relid=0 | w=34
  1462. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system
    n1=en:incidence of 1 in 250,000 births | n2=en:patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system | rel=r_associated | relid=0 | w=34
  1463. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:patients remain ambulatory
    n1=en:incidence of 1 in 250,000 births | n2=en:patients remain ambulatory | rel=r_associated | relid=0 | w=34
  1464. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:patients who acquire ability to walk may lose it
    n1=en:incidence of 1 in 250,000 births | n2=en:patients who acquire ability to walk may lose it | rel=r_associated | relid=0 | w=34
  1465. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:patients with atypical form have milder disease, with onset in the first months of life and increased survival
    n1=en:incidence of 1 in 250,000 births | 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=34
  1466. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:patients with homozygous mutations display mild palmoplantar keratoderma and woolly hair in addition to arvd
    n1=en:incidence of 1 in 250,000 births | n2=en:patients with homozygous mutations display mild palmoplantar keratoderma and woolly hair in addition to arvd | rel=r_associated | relid=0 | w=34
  1467. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:patients with later onset have better prognosis
    n1=en:incidence of 1 in 250,000 births | n2=en:patients with later onset have better prognosis | rel=r_associated | relid=0 | w=34
  1468. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:penetrance is usually complete by age 65 years
    n1=en:incidence of 1 in 250,000 births | n2=en:penetrance is usually complete by age 65 years | rel=r_associated | relid=0 | w=34
  1469. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:phenotype may be influenced by maternal alcohol consumption during pregnancy
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotype may be influenced by maternal alcohol consumption during pregnancy | rel=r_associated | relid=0 | w=34
  1470. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:phenotype range from typical parkinson disease (168600) to dementia with lewy bodies (127750)
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotype range from typical parkinson disease (168600) to dementia with lewy bodies (127750) | rel=r_associated | relid=0 | w=34
  1471. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:phenotypic overlap with noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150)
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic overlap with noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150) | rel=r_associated | relid=0 | w=34
  1472. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:phenotypic variability
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic variability | rel=r_associated | relid=0 | w=34
  1473. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:phenotypic variability within families and among patients carrying the same mutation
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic variability within families and among patients carrying the same mutation | rel=r_associated | relid=0 | w=34
  1474. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:poor response to l-dopa
    n1=en:incidence of 1 in 250,000 births | n2=en:poor response to l-dopa | rel=r_associated | relid=0 | w=34
  1475. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:possible increase of aneuploidy in offspring
    n1=en:incidence of 1 in 250,000 births | n2=en:possible increase of aneuploidy in offspring | rel=r_associated | relid=0 | w=34
  1476. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:precipitated by infection, fasting, or intercurrent illness
    n1=en:incidence of 1 in 250,000 births | n2=en:precipitated by infection, fasting, or intercurrent illness | rel=r_associated | relid=0 | w=34
  1477. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death
    n1=en:incidence of 1 in 250,000 births | 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=34
  1478. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:present at birth
    n1=en:incidence of 1 in 250,000 births | n2=en:present at birth | rel=r_associated | relid=0 | w=34
  1479. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:presentation at 3-6 weeks of age
    n1=en:incidence of 1 in 250,000 births | n2=en:presentation at 3-6 weeks of age | rel=r_associated | relid=0 | w=34
  1480. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia
    n1=en:incidence of 1 in 250,000 births | 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=34
  1481. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:prevalence 1 in 1,250
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence 1 in 1,250 | rel=r_associated | relid=0 | w=34
  1482. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:prevalence 1/10,000-1/15,000 female births
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence 1/10,000-1/15,000 female births | rel=r_associated | relid=0 | w=34
  1483. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:prevalence in caucasians is 1 in 1,000,000
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence in caucasians is 1 in 1,000,000 | rel=r_associated | relid=0 | w=34
  1484. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:prevalence in norway is 1 in 80,000
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence in norway is 1 in 80,000 | rel=r_associated | relid=0 | w=34
  1485. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:prevalence of 0.5 to 1 in 1,000
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 0.5 to 1 in 1,000 | rel=r_associated | relid=0 | w=34
  1486. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:prevalence of 1 in 10,000 caucasians
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 1 in 10,000 caucasians | rel=r_associated | relid=0 | w=34
  1487. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:prevalence of 1 in 240 zuni indians
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 1 in 240 zuni indians | rel=r_associated | relid=0 | w=34
  1488. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:prevalence of 1 in 3,900 in south africa
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 1 in 3,900 in south africa | rel=r_associated | relid=0 | w=34
  1489. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:prevalence of 1 in 40,000 among caucasians
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 1 in 40,000 among caucasians | rel=r_associated | relid=0 | w=34
  1490. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:prevalence of 1 in 40,000 to 1 in 80,000
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 1 in 40,000 to 1 in 80,000 | rel=r_associated | relid=0 | w=34
  1491. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:prevalence of 1 in 50,000-70,000 live births
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 1 in 50,000-70,000 live births | rel=r_associated | relid=0 | w=34
  1492. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:prevalence of approximately 1 in 2000 individuals
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of approximately 1 in 2000 individuals | rel=r_associated | relid=0 | w=34
  1493. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:prevalence of in 1 in 8,000
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of in 1 in 8,000 | rel=r_associated | relid=0 | w=34
  1494. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:prevalent in arabic, turkish, armenian, and sephardic jewish populations
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalent in arabic, turkish, armenian, and sephardic jewish populations | rel=r_associated | relid=0 | w=34
  1495. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:prevalent in quebec
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalent in quebec | rel=r_associated | relid=0 | w=34
  1496. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:prognosis good
    n1=en:incidence of 1 in 250,000 births | n2=en:prognosis good | rel=r_associated | relid=0 | w=34
  1497. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:progression in adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:progression in adulthood | rel=r_associated | relid=0 | w=34
  1498. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:progressive degenerative hip disease requiring replacement in 2nd to 4th decade
    n1=en:incidence of 1 in 250,000 births | n2=en:progressive degenerative hip disease requiring replacement in 2nd to 4th decade | rel=r_associated | relid=0 | w=34
  1499. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:progressive, with full manifestations at puberty
    n1=en:incidence of 1 in 250,000 births | n2=en:progressive, with full manifestations at puberty | rel=r_associated | relid=0 | w=34
  1500. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:ptosis is usually presenting feature
    n1=en:incidence of 1 in 250,000 births | n2=en:ptosis is usually presenting feature | rel=r_associated | relid=0 | w=34
  1501. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:pyridoxine responsive individuals often have milder manifestations than those not responsive
    n1=en:incidence of 1 in 250,000 births | n2=en:pyridoxine responsive individuals often have milder manifestations than those not responsive | rel=r_associated | relid=0 | w=34
  1502. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:rapid disease progression from ages 40 to 50 years
    n1=en:incidence of 1 in 250,000 births | n2=en:rapid disease progression from ages 40 to 50 years | rel=r_associated | relid=0 | w=34
  1503. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:rapid progression in adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:rapid progression in adolescence | rel=r_associated | relid=0 | w=34
  1504. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:rare adult onset
    n1=en:incidence of 1 in 250,000 births | n2=en:rare adult onset | rel=r_associated | relid=0 | w=34
  1505. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:rare disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:rare disorder | rel=r_associated | relid=0 | w=34
  1506. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:recessive inheritance has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:recessive inheritance has been reported | rel=r_associated | relid=0 | w=34
  1507. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:reduced zinc in affected mother's breast milk is unresponsive to oral zinc supplementation
    n1=en:incidence of 1 in 250,000 births | n2=en:reduced zinc in affected mother's breast milk is unresponsive to oral zinc supplementation | rel=r_associated | relid=0 | w=34
  1508. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:regional, racial, and ethnic clustering has been noted
    n1=en:incidence of 1 in 250,000 births | n2=en:regional, racial, and ethnic clustering has been noted | rel=r_associated | relid=0 | w=34
  1509. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:relationship of rare neuropsychiatric signs to histidinemia is unclear
    n1=en:incidence of 1 in 250,000 births | n2=en:relationship of rare neuropsychiatric signs to histidinemia is unclear | rel=r_associated | relid=0 | w=34
  1510. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:relief is achieved by cooling or by elevating the extremities
    n1=en:incidence of 1 in 250,000 births | n2=en:relief is achieved by cooling or by elevating the extremities | rel=r_associated | relid=0 | w=34
  1511. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:renal involvement and coloboma may not be present
    n1=en:incidence of 1 in 250,000 births | n2=en:renal involvement and coloboma may not be present | rel=r_associated | relid=0 | w=34
  1512. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:reported in 2 sibs (february 1991)
    n1=en:incidence of 1 in 250,000 births | n2=en:reported in 2 sibs (february 1991) | rel=r_associated | relid=0 | w=34
  1513. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:resembles pseudo-torch syndrome (251290)
    n1=en:incidence of 1 in 250,000 births | n2=en:resembles pseudo-torch syndrome (251290) | rel=r_associated | relid=0 | w=34
  1514. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:resource identifier:uri:pt:study:nom
    n1=en:incidence of 1 in 250,000 births | n2=en:resource identifier:uri:pt:study:nom | rel=r_associated | relid=0 | w=34
  1515. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:responsive to treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:responsive to treatment | rel=r_associated | relid=0 | w=34
  1516. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:reticulate hyperpigmentation onset birth - 2 years
    n1=en:incidence of 1 in 250,000 births | n2=en:reticulate hyperpigmentation onset birth - 2 years | rel=r_associated | relid=0 | w=34
  1517. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:retinal hemorrhages usually resolve without sequelae
    n1=en:incidence of 1 in 250,000 births | n2=en:retinal hemorrhages usually resolve without sequelae | rel=r_associated | relid=0 | w=34
  1518. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:right side affected greater than left side
    n1=en:incidence of 1 in 250,000 births | n2=en:right side affected greater than left side | rel=r_associated | relid=0 | w=34
  1519. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:risk of affected offspring in paternal translocation carrier - 0-7%
    n1=en:incidence of 1 in 250,000 births | n2=en:risk of affected offspring in paternal translocation carrier - 0-7% | rel=r_associated | relid=0 | w=34
  1520. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:risk of sudden death due to cardiac defects
    n1=en:incidence of 1 in 250,000 births | n2=en:risk of sudden death due to cardiac defects | rel=r_associated | relid=0 | w=34
  1521. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:seasonal variation in severity of skin symptoms reported by some patients
    n1=en:incidence of 1 in 250,000 births | n2=en:seasonal variation in severity of skin symptoms reported by some patients | rel=r_associated | relid=0 | w=34
  1522. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:see 609888 for a discussion on leprosy susceptibility
    n1=en:incidence of 1 in 250,000 births | n2=en:see 609888 for a discussion on leprosy susceptibility | rel=r_associated | relid=0 | w=34
  1523. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:see also autosomal dominant form (160800), which is less common and less severe
    n1=en:incidence of 1 in 250,000 births | n2=en:see also autosomal dominant form (160800), which is less common and less severe | rel=r_associated | relid=0 | w=34
  1524. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:see also chromosome 2q32-q33 deletion syndrome (612313)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also chromosome 2q32-q33 deletion syndrome (612313) | rel=r_associated | relid=0 | w=34
  1525. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:see also infantile (600649) and late-onset (255110) cpt ii deficiency
    n1=en:incidence of 1 in 250,000 births | n2=en:see also infantile (600649) and late-onset (255110) cpt ii deficiency | rel=r_associated | relid=0 | w=34
  1526. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:see also mmab (251110)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also mmab (251110) | rel=r_associated | relid=0 | w=34
  1527. en:incidence of 1 in 250,000 births -- 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:incidence of 1 in 250,000 births | 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
  1528. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:see also pgl2 (601650), pgl3 (605373), and pgl4 (115310)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also pgl2 (601650), pgl3 (605373), and pgl4 (115310) | rel=r_associated | relid=0 | w=34
  1529. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:see also simpson-golabi-behmel syndrome 1 (sgbs1, 312870)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also simpson-golabi-behmel syndrome 1 (sgbs1, 312870) | rel=r_associated | relid=0 | w=34
  1530. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300) | rel=r_associated | relid=0 | w=34
  1531. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:see ebn1 (121200) for an autosomal dominant form
    n1=en:incidence of 1 in 250,000 births | n2=en:see ebn1 (121200) for an autosomal dominant form | rel=r_associated | relid=0 | w=34
  1532. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:seen more frequently in infants of diabetic mothers
    n1=en:incidence of 1 in 250,000 births | n2=en:seen more frequently in infants of diabetic mothers | rel=r_associated | relid=0 | w=34
  1533. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:seizures easily controlled by medications
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures easily controlled by medications | rel=r_associated | relid=0 | w=34
  1534. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:seizures last about 30 seconds to 3 minutes
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures last about 30 seconds to 3 minutes | rel=r_associated | relid=0 | w=34
  1535. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:seizures occur upon awakening
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures occur upon awakening | rel=r_associated | relid=0 | w=34
  1536. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:seizures usually remit spontaneously by 12 months of age
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures usually remit spontaneously by 12 months of age | rel=r_associated | relid=0 | w=34
  1537. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:sensory loss is rapidly progressive and severe
    n1=en:incidence of 1 in 250,000 births | n2=en:sensory loss is rapidly progressive and severe | rel=r_associated | relid=0 | w=34
  1538. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:service comment 02:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=34
  1539. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:service comment 10:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=34
  1540. en:incidence of 1 in 250,000 births -- 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:incidence of 1 in 250,000 births | 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
  1541. en:incidence of 1 in 250,000 births -- 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:incidence of 1 in 250,000 births | 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
  1542. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:service comment 35:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=34
  1543. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:service comment 43:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=34
  1544. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:service comment 46:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=34
  1545. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:service comment 68:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=34
  1546. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:service comment 69:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=34
  1547. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:service comment 73:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=34
  1548. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:seventy percent of cases have associated anomalies
    n1=en:incidence of 1 in 250,000 births | n2=en:seventy percent of cases have associated anomalies | rel=r_associated | relid=0 | w=34
  1549. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:severe clinical course
    n1=en:incidence of 1 in 250,000 births | n2=en:severe clinical course | rel=r_associated | relid=0 | w=34
  1550. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:severely affected individuals may carry 2 mutated alleles
    n1=en:incidence of 1 in 250,000 births | n2=en:severely affected individuals may carry 2 mutated alleles | rel=r_associated | relid=0 | w=34
  1551. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:sex ratio - 2.3 males-to-1 female
    n1=en:incidence of 1 in 250,000 births | n2=en:sex ratio - 2.3 males-to-1 female | rel=r_associated | relid=0 | w=34
  1552. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:shields classification -
    n1=en:incidence of 1 in 250,000 births | n2=en:shields classification - | rel=r_associated | relid=0 | w=34
  1553. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:significant phenotypic variability
    n1=en:incidence of 1 in 250,000 births | n2=en:significant phenotypic variability | rel=r_associated | relid=0 | w=34
  1554. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:six patients have been reported (as of october 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:six patients have been reported (as of october 2011) | rel=r_associated | relid=0 | w=34
  1555. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:skin lesions manifest in the first year of life
    n1=en:incidence of 1 in 250,000 births | n2=en:skin lesions manifest in the first year of life | rel=r_associated | relid=0 | w=34
  1556. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:slc25a4 mutations account for approximately 4% of all peo cases
    n1=en:incidence of 1 in 250,000 births | n2=en:slc25a4 mutations account for approximately 4% of all peo cases | rel=r_associated | relid=0 | w=34
  1557. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:slow or nonprogressive
    n1=en:incidence of 1 in 250,000 births | n2=en:slow or nonprogressive | rel=r_associated | relid=0 | w=34
  1558. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:slowly or non-progressive
    n1=en:incidence of 1 in 250,000 births | n2=en:slowly or non-progressive | rel=r_associated | relid=0 | w=34
  1559. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:slowly progressive disease
    n1=en:incidence of 1 in 250,000 births | n2=en:slowly progressive disease | rel=r_associated | relid=0 | w=34
  1560. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:some carrier females have mild features
    n1=en:incidence of 1 in 250,000 births | n2=en:some carrier females have mild features | rel=r_associated | relid=0 | w=34
  1561. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:some features are variable, even within families
    n1=en:incidence of 1 in 250,000 births | n2=en:some features are variable, even within families | rel=r_associated | relid=0 | w=34
  1562. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa | rel=r_associated | relid=0 | w=34
  1563. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:some patients may benefit from coenzyme q10 treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may benefit from coenzyme q10 treatment | rel=r_associated | relid=0 | w=34
  1564. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:some patients may respond to thiamine treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may respond to thiamine treatment | rel=r_associated | relid=0 | w=34
  1565. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:some patients may show mild decrease in head circumference over time
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may show mild decrease in head circumference over time | rel=r_associated | relid=0 | w=34
  1566. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:some patients may show response to immunosuppressive agents
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may show response to immunosuppressive agents | rel=r_associated | relid=0 | w=34
  1567. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:some patients require cardiac transplantation
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients require cardiac transplantation | rel=r_associated | relid=0 | w=34
  1568. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:some patients show normal development until onset of disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients show normal development until onset of disorder | rel=r_associated | relid=0 | w=34
  1569. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:some patients show onset later in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients show onset later in childhood | rel=r_associated | relid=0 | w=34
  1570. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> 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:incidence of 1 in 250,000 births | 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=34
  1571. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:spastic paraplegia 2 (spg2, 312920) is an allelic disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:spastic paraplegia 2 (spg2, 312920) is an allelic disorder | rel=r_associated | relid=0 | w=34
  1572. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:spinal involvement improves with age
    n1=en:incidence of 1 in 250,000 births | n2=en:spinal involvement improves with age | rel=r_associated | relid=0 | w=34
  1573. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:splenectomy increases thrombotic risk in these patients
    n1=en:incidence of 1 in 250,000 births | n2=en:splenectomy increases thrombotic risk in these patients | rel=r_associated | relid=0 | w=34
  1574. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:spontaneous tumor regression may occur
    n1=en:incidence of 1 in 250,000 births | n2=en:spontaneous tumor regression may occur | rel=r_associated | relid=0 | w=34
  1575. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:subtle personality and behavioral changes are presenting signs
    n1=en:incidence of 1 in 250,000 births | n2=en:subtle personality and behavioral changes are presenting signs | rel=r_associated | relid=0 | w=34
  1576. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:subtype 3c (231005) comprises cardiovascular calcifications
    n1=en:incidence of 1 in 250,000 births | n2=en:subtype 3c (231005) comprises cardiovascular calcifications | rel=r_associated | relid=0 | w=34
  1577. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:sudden cardiac death frequent in affected families
    n1=en:incidence of 1 in 250,000 births | n2=en:sudden cardiac death frequent in affected families | rel=r_associated | relid=0 | w=34
  1578. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:sudden death in affected males occurs in teens
    n1=en:incidence of 1 in 250,000 births | n2=en:sudden death in affected males occurs in teens | rel=r_associated | relid=0 | w=34
  1579. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:survival to 20s-60s in iib
    n1=en:incidence of 1 in 250,000 births | n2=en:survival to 20s-60s in iib | rel=r_associated | relid=0 | w=34
  1580. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:survival to 5-15 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:survival to 5-15 years of age | rel=r_associated | relid=0 | w=34
  1581. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:symptom onset ranges from infancy to adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:symptom onset ranges from infancy to adulthood | rel=r_associated | relid=0 | w=34
  1582. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:symptoms are not apparent at rest
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms are not apparent at rest | rel=r_associated | relid=0 | w=34
  1583. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:symptoms develop immediately after birth
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms develop immediately after birth | rel=r_associated | relid=0 | w=34
  1584. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:symptoms improve following sleep
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms improve following sleep | rel=r_associated | relid=0 | w=34
  1585. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:symptoms induced by strenuous exercise
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms induced by strenuous exercise | rel=r_associated | relid=0 | w=34
  1586. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:symptoms occur only during sleep
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms occur only during sleep | rel=r_associated | relid=0 | w=34
  1587. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes | rel=r_associated | relid=0 | w=34
  1588. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:symptoms precipitated by sudden movement, stress, exertion, fatigue, illness
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms precipitated by sudden movement, stress, exertion, fatigue, illness | rel=r_associated | relid=0 | w=34
  1589. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:symptoms precipitated by sudden movements
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms precipitated by sudden movements | rel=r_associated | relid=0 | w=34
  1590. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:symptoms relieved by ovarian suppression
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms relieved by ovarian suppression | rel=r_associated | relid=0 | w=34
  1591. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:symptoms resolve over weeks to months with usually no residual symptoms between attacks
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms resolve over weeks to months with usually no residual symptoms between attacks | rel=r_associated | relid=0 | w=34
  1592. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:symptoms usually occur in adults
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms usually occur in adults | rel=r_associated | relid=0 | w=34
  1593. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:the most studied group is efe pygmies from ituri forest in northeast zaire
    n1=en:incidence of 1 in 250,000 births | n2=en:the most studied group is efe pygmies from ituri forest in northeast zaire | rel=r_associated | relid=0 | w=34
  1594. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:thorax anomaly ameliorates with age (in some patients)
    n1=en:incidence of 1 in 250,000 births | n2=en:thorax anomaly ameliorates with age (in some patients) | rel=r_associated | relid=0 | w=34
  1595. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:three amish patients have been reported (as of february 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:three amish patients have been reported (as of february 2012) | rel=r_associated | relid=0 | w=34
  1596. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:three families have been reported (last curated august 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:three families have been reported (last curated august 2012) | rel=r_associated | relid=0 | w=34
  1597. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:three patients (2 related) reported (last curated march 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:three patients (2 related) reported (last curated march 2013) | rel=r_associated | relid=0 | w=34
  1598. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:three patients have been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:three patients have been reported | rel=r_associated | relid=0 | w=34
  1599. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:three patients have been reported (as of october 2009)
    n1=en:incidence of 1 in 250,000 births | n2=en:three patients have been reported (as of october 2009) | rel=r_associated | relid=0 | w=34
  1600. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> 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:incidence of 1 in 250,000 births | 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=34
  1601. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:three types of cystinosis are recognized
    n1=en:incidence of 1 in 250,000 births | n2=en:three types of cystinosis are recognized | rel=r_associated | relid=0 | w=34
  1602. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:three unrelated families have been reported (last curated november 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:three unrelated families have been reported (last curated november 2014) | rel=r_associated | relid=0 | w=34
  1603. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:three unrelated patients have been reported (last curated april 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:three unrelated patients have been reported (last curated april 2014) | rel=r_associated | relid=0 | w=34
  1604. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery
    n1=en:incidence of 1 in 250,000 births | n2=en:thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery | rel=r_associated | relid=0 | w=34
  1605. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:treatment with serine and glycine replacement may alleviate features if started at birth
    n1=en:incidence of 1 in 250,000 births | n2=en:treatment with serine and glycine replacement may alleviate features if started at birth | rel=r_associated | relid=0 | w=34
  1606. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:truncating mutations in crebbp found in 10% of patients
    n1=en:incidence of 1 in 250,000 births | n2=en:truncating mutations in crebbp found in 10% of patients | rel=r_associated | relid=0 | w=34
  1607. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:two brothers have been reported (last curated august 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two brothers have been reported (last curated august 2012) | rel=r_associated | relid=0 | w=34
  1608. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> 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:incidence of 1 in 250,000 births | 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=34
  1609. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:two families have been reported (as of june 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:two families have been reported (as of june 2011) | rel=r_associated | relid=0 | w=34
  1610. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:two families have been reported (last curated december 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:two families have been reported (last curated december 2013) | rel=r_associated | relid=0 | w=34
  1611. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:two families have been reported (last curated february 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two families have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=34
  1612. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:two main presentations
    n1=en:incidence of 1 in 250,000 births | n2=en:two main presentations | rel=r_associated | relid=0 | w=34
  1613. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:two of 6 patients became wheelchair-bound by age 20 years
    n1=en:incidence of 1 in 250,000 births | n2=en:two of 6 patients became wheelchair-bound by age 20 years | rel=r_associated | relid=0 | w=34
  1614. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:two sibs died before 2 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:two sibs died before 2 years of age | rel=r_associated | relid=0 | w=34
  1615. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> 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:incidence of 1 in 250,000 births | 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=34
  1616. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:two unrelated families have been reported (last curated december 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated families have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=34
  1617. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:two unrelated families have been reported (last curated february 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated families have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=34
  1618. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:two unrelated families have been reported (last curated july 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated families have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=34
  1619. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:two unrelated japanese families have been reported (last curated september 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated japanese families have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=34
  1620. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:two unrelated patients have been reported (last curated february 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=34
  1621. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:two unrelated patients have been reported, but nadk2 mutation has only been confirmed in 1 patient (last curated september 2014)
    n1=en:incidence of 1 in 250,000 births | 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=34
  1622. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:two unrelated patients with de novo mutations have been reported (last curated november 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients with de novo mutations have been reported (last curated november 2013) | rel=r_associated | relid=0 | w=34
  1623. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:two unrelated patients with slightly different phenotypes have been reported (last curated august 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients with slightly different phenotypes have been reported (last curated august 2013) | rel=r_associated | relid=0 | w=34
  1624. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:type 3 - brandywine isolate opalescent dentin (125500)
    n1=en:incidence of 1 in 250,000 births | n2=en:type 3 - brandywine isolate opalescent dentin (125500) | rel=r_associated | relid=0 | w=34
  1625. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:typical attacks last from seconds to minutes, but longer occurrences have been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:typical attacks last from seconds to minutes, but longer occurrences have been reported | rel=r_associated | relid=0 | w=34
  1626. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:ullrich congenital muscular dystrophy (254090) is an allelic disorder with autosomal recessive inheritance and a more severe phenotype
    n1=en:incidence of 1 in 250,000 births | 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=34
  1627. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:up to 60% of female mutation carriers develop lobular breast cancer
    n1=en:incidence of 1 in 250,000 births | n2=en:up to 60% of female mutation carriers develop lobular breast cancer | rel=r_associated | relid=0 | w=34
  1628. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:upper limb involvement may occur later
    n1=en:incidence of 1 in 250,000 births | n2=en:upper limb involvement may occur later | rel=r_associated | relid=0 | w=34
  1629. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> 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:incidence of 1 in 250,000 births | 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=34
  1630. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:usual onset before age 6 years and death by age 20
    n1=en:incidence of 1 in 250,000 births | n2=en:usual onset before age 6 years and death by age 20 | rel=r_associated | relid=0 | w=34
  1631. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:usually begins in feet and legs (peroneal distribution)
    n1=en:incidence of 1 in 250,000 births | n2=en:usually begins in feet and legs (peroneal distribution) | rel=r_associated | relid=0 | w=34
  1632. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:usually clinically asymptomatic
    n1=en:incidence of 1 in 250,000 births | n2=en:usually clinically asymptomatic | rel=r_associated | relid=0 | w=34
  1633. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:usually presents in third to fourth decade (but onset can range from childhood to elderly)
    n1=en:incidence of 1 in 250,000 births | n2=en:usually presents in third to fourth decade (but onset can range from childhood to elderly) | rel=r_associated | relid=0 | w=34
  1634. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:variable age at onset
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset | rel=r_associated | relid=0 | w=34
  1635. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:variable age at onset (range 2 to 48 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (range 2 to 48 years) | rel=r_associated | relid=0 | w=34
  1636. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:variable age at onset (range 4 to 40 years, mostly in first or second decade)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (range 4 to 40 years, mostly in first or second decade) | rel=r_associated | relid=0 | w=34
  1637. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:variable age at onset (range infancy to late adulthood)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (range infancy to late adulthood) | rel=r_associated | relid=0 | w=34
  1638. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:variable age at onset, infancy to adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset, infancy to adulthood | rel=r_associated | relid=0 | w=34
  1639. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:variable age at onset, mostly in third decade (range teenage years to fourth decade)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset, mostly in third decade (range teenage years to fourth decade) | rel=r_associated | relid=0 | w=34
  1640. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:variable age at onset, ranges from third to fifth decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset, ranges from third to fifth decade of life | rel=r_associated | relid=0 | w=34
  1641. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:variable age of onset (childhood to adult)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age of onset (childhood to adult) | rel=r_associated | relid=0 | w=34
  1642. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:variable age of onset (childhood to adulthood)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age of onset (childhood to adulthood) | rel=r_associated | relid=0 | w=34
  1643. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:variable age of onset (range 4 months to 45 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age of onset (range 4 months to 45 years) | rel=r_associated | relid=0 | w=34
  1644. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:variable age of onset, from 6 to 50 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age of onset, from 6 to 50 years of age | rel=r_associated | relid=0 | w=34
  1645. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:variable clinical presentation
    n1=en:incidence of 1 in 250,000 births | n2=en:variable clinical presentation | rel=r_associated | relid=0 | w=34
  1646. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:variable duration (minutes to hours)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable duration (minutes to hours) | rel=r_associated | relid=0 | w=34
  1647. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:variable involvement of hematologic parameters
    n1=en:incidence of 1 in 250,000 births | n2=en:variable involvement of hematologic parameters | rel=r_associated | relid=0 | w=34
  1648. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:variable manifestations
    n1=en:incidence of 1 in 250,000 births | n2=en:variable manifestations | rel=r_associated | relid=0 | w=34
  1649. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:variable neurologic phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:variable neurologic phenotype | rel=r_associated | relid=0 | w=34
  1650. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:variable penetrance
    n1=en:incidence of 1 in 250,000 births | n2=en:variable penetrance | rel=r_associated | relid=0 | w=34
  1651. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:variable progression
    n1=en:incidence of 1 in 250,000 births | n2=en:variable progression | rel=r_associated | relid=0 | w=34
  1652. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:variable progression rate
    n1=en:incidence of 1 in 250,000 births | n2=en:variable progression rate | rel=r_associated | relid=0 | w=34
  1653. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:variable severity that correlates with rate and magnitude of neuronal protein accumulation
    n1=en:incidence of 1 in 250,000 births | n2=en:variable severity that correlates with rate and magnitude of neuronal protein accumulation | rel=r_associated | relid=0 | w=34
  1654. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:variable severity, correlates with age at onset
    n1=en:incidence of 1 in 250,000 births | n2=en:variable severity, correlates with age at onset | rel=r_associated | relid=0 | w=34
  1655. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:visual symptoms present by late childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:visual symptoms present by late childhood | rel=r_associated | relid=0 | w=34
  1656. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:waddling gait
    n1=en:incidence of 1 in 250,000 births | n2=en:waddling gait | rel=r_associated | relid=0 | w=34
  1657. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:warm weather and alcohol are alleviating factors
    n1=en:incidence of 1 in 250,000 births | n2=en:warm weather and alcohol are alleviating factors | rel=r_associated | relid=0 | w=34
  1658. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:worldwide prevalence of 1/100,000
    n1=en:incidence of 1 in 250,000 births | n2=en:worldwide prevalence of 1/100,000 | rel=r_associated | relid=0 | w=34
  1659. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:x-linked recessive cytochrome b-negative cgd
    n1=en:incidence of 1 in 250,000 births | n2=en:x-linked recessive cytochrome b-negative cgd | rel=r_associated | relid=0 | w=34
  1660. en:incidence of 1 in 250,000 births -- r_associated #0: 34 / 0.791 -> en:zinc deficiency in breastfed offspring resolves after weaning
    n1=en:incidence of 1 in 250,000 births | n2=en:zinc deficiency in breastfed offspring resolves after weaning | rel=r_associated | relid=0 | w=34
  1661. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:'second wind' phenomenon
    n1=en:incidence of 1 in 250,000 births | n2=en:'second wind' phenomenon | rel=r_associated | relid=0 | w=32
  1662. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:(3) adult nonnephropathic (219750)
    n1=en:incidence of 1 in 250,000 births | n2=en:(3) adult nonnephropathic (219750) | rel=r_associated | relid=0 | w=32
  1663. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:15 patients from 5 kindreds reported (as of february 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:15 patients from 5 kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=32
  1664. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:2% due to paternal uniparental disomy of 15q11.2-q13
    n1=en:incidence of 1 in 250,000 births | n2=en:2% due to paternal uniparental disomy of 15q11.2-q13 | rel=r_associated | relid=0 | w=32
  1665. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:5-10% of all wilms tumor are bilateral
    n1=en:incidence of 1 in 250,000 births | n2=en:5-10% of all wilms tumor are bilateral | rel=r_associated | relid=0 | w=32
  1666. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:50% of cases are de novo
    n1=en:incidence of 1 in 250,000 births | n2=en:50% of cases are de novo | rel=r_associated | relid=0 | w=32
  1667. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:85-90% with manifestations in first months of life
    n1=en:incidence of 1 in 250,000 births | n2=en:85-90% with manifestations in first months of life | rel=r_associated | relid=0 | w=32
  1668. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:94% develop hypertension at 18 years of age or less
    n1=en:incidence of 1 in 250,000 births | n2=en:94% develop hypertension at 18 years of age or less | rel=r_associated | relid=0 | w=32
  1669. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:95% of cases are sporadic
    n1=en:incidence of 1 in 250,000 births | n2=en:95% of cases are sporadic | rel=r_associated | relid=0 | w=32
  1670. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:99+% of the mutations are fgfr3, g380r (134934.0001)
    n1=en:incidence of 1 in 250,000 births | n2=en:99+% of the mutations are fgfr3, g380r (134934.0001) | rel=r_associated | relid=0 | w=32
  1671. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:a second patient died at age 3 years
    n1=en:incidence of 1 in 250,000 births | n2=en:a second patient died at age 3 years | rel=r_associated | relid=0 | w=32
  1672. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:a subgroup of patients with sponastrime dysplasia have severe mental retardation
    n1=en:incidence of 1 in 250,000 births | n2=en:a subgroup of patients with sponastrime dysplasia have severe mental retardation | rel=r_associated | relid=0 | w=32
  1673. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:accounts for 1-2% of lymphomas in adults
    n1=en:incidence of 1 in 250,000 births | n2=en:accounts for 1-2% of lymphomas in adults | rel=r_associated | relid=0 | w=32
  1674. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:accounts for approximately 5% of the epilepsies
    n1=en:incidence of 1 in 250,000 births | n2=en:accounts for approximately 5% of the epilepsies | rel=r_associated | relid=0 | w=32
  1675. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:acute neurologic deterioration after viral illness has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:acute neurologic deterioration after viral illness has been reported | rel=r_associated | relid=0 | w=32
  1676. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:adult onset (mean 60 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (mean 60 years) | rel=r_associated | relid=0 | w=32
  1677. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:adult onset (range 30 to 50 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (range 30 to 50 years) | rel=r_associated | relid=0 | w=32
  1678. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:adult onset (range 40 to 60 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (range 40 to 60 years) | rel=r_associated | relid=0 | w=32
  1679. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:adult onset (thirties to forties)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (thirties to forties) | rel=r_associated | relid=0 | w=32
  1680. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:adult onset has been rarely reported
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset has been rarely reported | rel=r_associated | relid=0 | w=32
  1681. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:adult onset of gait abnormalities
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset of gait abnormalities | rel=r_associated | relid=0 | w=32
  1682. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:adult onset of muscle symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset of muscle symptoms | rel=r_associated | relid=0 | w=32
  1683. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause
    n1=en:incidence of 1 in 250,000 births | n2=en:affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause | rel=r_associated | relid=0 | w=32
  1684. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:affected males have serotonin-related disorders such as migraine headaches and diabetes
    n1=en:incidence of 1 in 250,000 births | n2=en:affected males have serotonin-related disorders such as migraine headaches and diabetes | rel=r_associated | relid=0 | w=32
  1685. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:affected, mild - 50-150 repeats
    n1=en:incidence of 1 in 250,000 births | n2=en:affected, mild - 50-150 repeats | rel=r_associated | relid=0 | w=32
  1686. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:affects 1 in 250,000 to 1 million people worldwide
    n1=en:incidence of 1 in 250,000 births | n2=en:affects 1 in 250,000 to 1 million people worldwide | rel=r_associated | relid=0 | w=32
  1687. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:affects 1 to 3% of the population
    n1=en:incidence of 1 in 250,000 births | n2=en:affects 1 to 3% of the population | rel=r_associated | relid=0 | w=32
  1688. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:affects between 1 in 200 to 1 in 400 individuals of northern european descent
    n1=en:incidence of 1 in 250,000 births | n2=en:affects between 1 in 200 to 1 in 400 individuals of northern european descent | rel=r_associated | relid=0 | w=32
  1689. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:age at onset ranges from 50 to 70 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age at onset ranges from 50 to 70 years | rel=r_associated | relid=0 | w=32
  1690. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:age of onset from 18 to 45 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset from 18 to 45 years | rel=r_associated | relid=0 | w=32
  1691. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:age of onset of upper limb involvement 10-43 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset of upper limb involvement 10-43 years | rel=r_associated | relid=0 | w=32
  1692. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:age:time:pt:^patient:qn:reported
    n1=en:incidence of 1 in 250,000 births | n2=en:age:time:pt:^patient:qn:reported | rel=r_associated | relid=0 | w=32
  1693. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:aggressive malignancies
    n1=en:incidence of 1 in 250,000 births | n2=en:aggressive malignancies | rel=r_associated | relid=0 | w=32
  1694. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:all cases sporadic (18 males, 7 females)
    n1=en:incidence of 1 in 250,000 births | n2=en:all cases sporadic (18 males, 7 females) | rel=r_associated | relid=0 | w=32
  1695. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:all de novo mutations
    n1=en:incidence of 1 in 250,000 births | n2=en:all de novo mutations | rel=r_associated | relid=0 | w=32
  1696. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:all reported cases have de novo mutations (last curated october 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:all reported cases have de novo mutations (last curated october 2014) | rel=r_associated | relid=0 | w=32
  1697. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:all reported cases have resulted from de novo mutations
    n1=en:incidence of 1 in 250,000 births | n2=en:all reported cases have resulted from de novo mutations | rel=r_associated | relid=0 | w=32
  1698. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, 601317) and usher syndrome type ib (276900)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, 601317) and usher syndrome type ib (276900) | rel=r_associated | relid=0 | w=32
  1699. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:allelic disorder to autosomal recessive form (224900)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to autosomal recessive form (224900) | rel=r_associated | relid=0 | w=32
  1700. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:allelic disorder to autosomal recessive inclusion body myopathy-2 (ibm2, 600737)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to autosomal recessive inclusion body myopathy-2 (ibm2, 600737) | rel=r_associated | relid=0 | w=32
  1701. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:allelic disorder to cln8 (600143)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to cln8 (600143) | rel=r_associated | relid=0 | w=32
  1702. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:allelic disorder to corticosterone methyloxidase type ii deficiency (610600)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to corticosterone methyloxidase type ii deficiency (610600) | rel=r_associated | relid=0 | w=32
  1703. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:allelic disorder to distal spinal muscular atrophy, type v (dsmav, 600794), but distinguished by the presence of spasticity
    n1=en:incidence of 1 in 250,000 births | 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=32
  1704. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:allelic disorder to juvenile nephronophthisis-1 (256100)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to juvenile nephronophthisis-1 (256100) | rel=r_associated | relid=0 | w=32
  1705. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and familial cylindromatosis (fc, 132700)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and familial cylindromatosis (fc, 132700) | rel=r_associated | relid=0 | w=32
  1706. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:allelic disorder to parkinson disease-1 (park1, 168601)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to parkinson disease-1 (park1, 168601) | rel=r_associated | relid=0 | w=32
  1707. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:allelic disorder to stickler syndrome 3 (184840)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to stickler syndrome 3 (184840) | rel=r_associated | relid=0 | w=32
  1708. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:allelic disorder to the ivic syndrome (147750)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to the ivic syndrome (147750) | rel=r_associated | relid=0 | w=32
  1709. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:allelic to acrocapitofemoral dysplasia (607778)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to acrocapitofemoral dysplasia (607778) | rel=r_associated | relid=0 | w=32
  1710. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:allelic to birt-hogg-dube syndrome (135150)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to birt-hogg-dube syndrome (135150) | rel=r_associated | relid=0 | w=32
  1711. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:allelic to craniometaphyseal dysplasia (123000)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to craniometaphyseal dysplasia (123000) | rel=r_associated | relid=0 | w=32
  1712. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:allelic to giant platelet syndrome (231200) and bernard-soulier syndrome, benign, autosomal dominant (153670)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to giant platelet syndrome (231200) and bernard-soulier syndrome, benign, autosomal dominant (153670) | rel=r_associated | relid=0 | w=32
  1713. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:allelic to joubert syndrome 5 (610188) and leber congenital amaurosis type x (610142)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to joubert syndrome 5 (610188) and leber congenital amaurosis type x (610142) | rel=r_associated | relid=0 | w=32
  1714. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:allelic to osteopetrosis (259700)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to osteopetrosis (259700) | rel=r_associated | relid=0 | w=32
  1715. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:allelic to ulnar and fibula, absence of, with severe limb deficiency (al-awadi/raas-rothschild/schinzel phocomelia syndrome 276820)
    n1=en:incidence of 1 in 250,000 births | 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=32
  1716. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:allelic to waardenburg syndrome, type iia (193510)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to waardenburg syndrome, type iia (193510) | rel=r_associated | relid=0 | w=32
  1717. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:allelic with retinitis pigmentosa 35 (610282)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic with retinitis pigmentosa 35 (610282) | rel=r_associated | relid=0 | w=32
  1718. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:alopecia usually occurs around puberty
    n1=en:incidence of 1 in 250,000 births | n2=en:alopecia usually occurs around puberty | rel=r_associated | relid=0 | w=32
  1719. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:an autosomal recessive form has been reported (269720)
    n1=en:incidence of 1 in 250,000 births | n2=en:an autosomal recessive form has been reported (269720) | rel=r_associated | relid=0 | w=32
  1720. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:approximately one-third of patients become seizure-free with age
    n1=en:incidence of 1 in 250,000 births | n2=en:approximately one-third of patients become seizure-free with age | rel=r_associated | relid=0 | w=32
  1721. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:associated with increasing age
    n1=en:incidence of 1 in 250,000 births | n2=en:associated with increasing age | rel=r_associated | relid=0 | w=32
  1722. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:associated with smoking
    n1=en:incidence of 1 in 250,000 births | n2=en:associated with smoking | rel=r_associated | relid=0 | w=32
  1723. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease)
    n1=en:incidence of 1 in 250,000 births | n2=en:associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease) | rel=r_associated | relid=0 | w=32
  1724. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:association between hla class ii alleles and presence of autoantibodies
    n1=en:incidence of 1 in 250,000 births | n2=en:association between hla class ii alleles and presence of autoantibodies | rel=r_associated | relid=0 | w=32
  1725. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:ataxia is nonprogressive
    n1=en:incidence of 1 in 250,000 births | n2=en:ataxia is nonprogressive | rel=r_associated | relid=0 | w=32
  1726. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:attacks tend to decrease with age
    n1=en:incidence of 1 in 250,000 births | n2=en:attacks tend to decrease with age | rel=r_associated | relid=0 | w=32
  1727. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:aura may occur
    n1=en:incidence of 1 in 250,000 births | n2=en:aura may occur | rel=r_associated | relid=0 | w=32
  1728. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:autosomal recessive inheritance has been reported (see 601253.0010)
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal recessive inheritance has been reported (see 601253.0010) | rel=r_associated | relid=0 | w=32
  1729. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:average age at onset 18.6 years
    n1=en:incidence of 1 in 250,000 births | n2=en:average age at onset 18.6 years | rel=r_associated | relid=0 | w=32
  1730. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:average age of onset 57 years
    n1=en:incidence of 1 in 250,000 births | n2=en:average age of onset 57 years | rel=r_associated | relid=0 | w=32
  1731. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:average duration of illness 8 years
    n1=en:incidence of 1 in 250,000 births | n2=en:average duration of illness 8 years | rel=r_associated | relid=0 | w=32
  1732. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:average onset 6 months (range 3-9)
    n1=en:incidence of 1 in 250,000 births | n2=en:average onset 6 months (range 3-9) | rel=r_associated | relid=0 | w=32
  1733. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:based on 2 patients from 1 consanguineous lebanese family (as of april 2010)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on 2 patients from 1 consanguineous lebanese family (as of april 2010) | rel=r_associated | relid=0 | w=32
  1734. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:based on 2 siblings in 1 family (last curated september 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on 2 siblings in 1 family (last curated september 2012) | rel=r_associated | relid=0 | w=32
  1735. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:based on one patient (last curated february 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on one patient (last curated february 2015) | rel=r_associated | relid=0 | w=32
  1736. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:based on report of 1 japanese family (last curated november 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on report of 1 japanese family (last curated november 2013) | rel=r_associated | relid=0 | w=32
  1737. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:based on report of 2 patients with dhtkd1 mutation (last curated november 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on report of 2 patients with dhtkd1 mutation (last curated november 2014) | rel=r_associated | relid=0 | w=32
  1738. en:incidence of 1 in 250,000 births -- 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:incidence of 1 in 250,000 births | 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
  1739. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:benign condition
    n1=en:incidence of 1 in 250,000 births | n2=en:benign condition | rel=r_associated | relid=0 | w=32
  1740. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:benign neonatal familial convulsions (see 601764, 121200, 121201, and 269720)
    n1=en:incidence of 1 in 250,000 births | n2=en:benign neonatal familial convulsions (see 601764, 121200, 121201, and 269720) | rel=r_associated | relid=0 | w=32
  1741. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:bleeding after trauma or surgery
    n1=en:incidence of 1 in 250,000 births | n2=en:bleeding after trauma or surgery | rel=r_associated | relid=0 | w=32
  1742. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:blistering and erosions tend to occur on extensor surfaces or over bony prominences
    n1=en:incidence of 1 in 250,000 births | n2=en:blistering and erosions tend to occur on extensor surfaces or over bony prominences | rel=r_associated | relid=0 | w=32
  1743. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:both reported cases survived beyond infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:both reported cases survived beyond infancy | rel=r_associated | relid=0 | w=32
  1744. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:boys are more often affected than girls (3:2)
    n1=en:incidence of 1 in 250,000 births | n2=en:boys are more often affected than girls (3:2) | rel=r_associated | relid=0 | w=32
  1745. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> 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:incidence of 1 in 250,000 births | 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=32
  1746. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:breech presentation
    n1=en:incidence of 1 in 250,000 births | n2=en:breech presentation | rel=r_associated | relid=0 | w=32
  1747. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:bullae are located randomly in familial cases and apical in sporadic cases
    n1=en:incidence of 1 in 250,000 births | n2=en:bullae are located randomly in familial cases and apical in sporadic cases | rel=r_associated | relid=0 | w=32
  1748. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:can be slowly or rapidly progressive
    n1=en:incidence of 1 in 250,000 births | n2=en:can be slowly or rapidly progressive | rel=r_associated | relid=0 | w=32
  1749. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:cardiac failure at birth
    n1=en:incidence of 1 in 250,000 births | n2=en:cardiac failure at birth | rel=r_associated | relid=0 | w=32
  1750. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography.
    n1=en:incidence of 1 in 250,000 births | n2=en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography. | rel=r_associated | relid=0 | w=32
  1751. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:carrier females show no phenotypic abnormalities, but may have learning difficulties
    n1=en:incidence of 1 in 250,000 births | n2=en:carrier females show no phenotypic abnormalities, but may have learning difficulties | rel=r_associated | relid=0 | w=32
  1752. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:cataracts variably present at birth
    n1=en:incidence of 1 in 250,000 births | n2=en:cataracts variably present at birth | rel=r_associated | relid=0 | w=32
  1753. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:cause of death usually due to respiratory failure before adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:cause of death usually due to respiratory failure before adulthood | rel=r_associated | relid=0 | w=32
  1754. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:caused by somatic mutations
    n1=en:incidence of 1 in 250,000 births | n2=en:caused by somatic mutations | rel=r_associated | relid=0 | w=32
  1755. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:child often can sit unsupported but never ambulates
    n1=en:incidence of 1 in 250,000 births | n2=en:child often can sit unsupported but never ambulates | rel=r_associated | relid=0 | w=32
  1756. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:chronic disease
    n1=en:incidence of 1 in 250,000 births | n2=en:chronic disease | rel=r_associated | relid=0 | w=32
  1757. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:clinical features in females include mild mental retardation (80%), short stature (50%), prominent forehead, and coarse facies
    n1=en:incidence of 1 in 250,000 births | 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=32
  1758. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:clinical manifestation ranges from mild, transient hypertension to hellp syndrome (hemolysis, elevated liver enzymes, and low platelets)
    n1=en:incidence of 1 in 250,000 births | 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=32
  1759. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:clinical manifestations only occur if vel-negative individuals have anti-vel antibodies and are transfused with vel-positive blood
    n1=en:incidence of 1 in 250,000 births | 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=32
  1760. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:clinical overlap with congenital hypomyelinating neuropathy (chn, 605253)
    n1=en:incidence of 1 in 250,000 births | n2=en:clinical overlap with congenital hypomyelinating neuropathy (chn, 605253) | rel=r_associated | relid=0 | w=32
  1761. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:clinical overlap with demyelinating charcot-marie-tooth disease type 1 (see cmt1b, 118200), but much more severe phenotype
    n1=en:incidence of 1 in 250,000 births | 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=32
  1762. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:clubfoot is bilateral in most patients
    n1=en:incidence of 1 in 250,000 births | n2=en:clubfoot is bilateral in most patients | rel=r_associated | relid=0 | w=32
  1763. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:complementation group b (represented by single atypical patient)
    n1=en:incidence of 1 in 250,000 births | n2=en:complementation group b (represented by single atypical patient) | rel=r_associated | relid=0 | w=32
  1764. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:complete penetrance but extreme variability of phenotypic expression
    n1=en:incidence of 1 in 250,000 births | n2=en:complete penetrance but extreme variability of phenotypic expression | rel=r_associated | relid=0 | w=32
  1765. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:congenital hypotonia from 8 to 12 months, then progressive spasticity resulting in contractures and spastic quadriplegia
    n1=en:incidence of 1 in 250,000 births | n2=en:congenital hypotonia from 8 to 12 months, then progressive spasticity resulting in contractures and spastic quadriplegia | rel=r_associated | relid=0 | w=32
  1766. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:considered a normal variant
    n1=en:incidence of 1 in 250,000 births | n2=en:considered a normal variant | rel=r_associated | relid=0 | w=32
  1767. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:contiguous gene deletion syndrome (in most patients)
    n1=en:incidence of 1 in 250,000 births | n2=en:contiguous gene deletion syndrome (in most patients) | rel=r_associated | relid=0 | w=32
  1768. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:contiguous gene duplication syndrome
    n1=en:incidence of 1 in 250,000 births | n2=en:contiguous gene duplication syndrome | rel=r_associated | relid=0 | w=32
  1769. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:cyp2d6 represents about 1% of total liver cytochrome p450 content
    n1=en:incidence of 1 in 250,000 births | n2=en:cyp2d6 represents about 1% of total liver cytochrome p450 content | rel=r_associated | relid=0 | w=32
  1770. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:date of observation:time stamp -- date and time:point in time:to be specified in another part of the message:quantitative
    n1=en:incidence of 1 in 250,000 births | 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=32
  1771. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:death between 2 years of age and young adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:death between 2 years of age and young adulthood | rel=r_associated | relid=0 | w=32
  1772. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:death by age 15 months
    n1=en:incidence of 1 in 250,000 births | n2=en:death by age 15 months | rel=r_associated | relid=0 | w=32
  1773. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:death by age 2 years
    n1=en:incidence of 1 in 250,000 births | n2=en:death by age 2 years | rel=r_associated | relid=0 | w=32
  1774. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:death in childhood may occur due to end-stage renal disease
    n1=en:incidence of 1 in 250,000 births | n2=en:death in childhood may occur due to end-stage renal disease | rel=r_associated | relid=0 | w=32
  1775. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:death in childhood often results from respiratory insufficiency
    n1=en:incidence of 1 in 250,000 births | n2=en:death in childhood often results from respiratory insufficiency | rel=r_associated | relid=0 | w=32
  1776. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:death in first weeks of life
    n1=en:incidence of 1 in 250,000 births | n2=en:death in first weeks of life | rel=r_associated | relid=0 | w=32
  1777. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:death in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:death in infancy | rel=r_associated | relid=0 | w=32
  1778. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:death in infancy in majority of patients
    n1=en:incidence of 1 in 250,000 births | n2=en:death in infancy in majority of patients | rel=r_associated | relid=0 | w=32
  1779. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:death in utero or early infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:death in utero or early infancy | rel=r_associated | relid=0 | w=32
  1780. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:death often secondary to pneumonia or congestive heart failure
    n1=en:incidence of 1 in 250,000 births | n2=en:death often secondary to pneumonia or congestive heart failure | rel=r_associated | relid=0 | w=32
  1781. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:death secondary to renal failure, cardiac or cerebrovascular disease
    n1=en:incidence of 1 in 250,000 births | n2=en:death secondary to renal failure, cardiac or cerebrovascular disease | rel=r_associated | relid=0 | w=32
  1782. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:death usually occurs in infancy or childhood if untreated
    n1=en:incidence of 1 in 250,000 births | n2=en:death usually occurs in infancy or childhood if untreated | rel=r_associated | relid=0 | w=32
  1783. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:diagnosed in second or third decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:diagnosed in second or third decade of life | rel=r_associated | relid=0 | w=32
  1784. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects)
    n1=en:incidence of 1 in 250,000 births | 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=32
  1785. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:distinct disorder from myasthenia gravis (mg, 254200)
    n1=en:incidence of 1 in 250,000 births | n2=en:distinct disorder from myasthenia gravis (mg, 254200) | rel=r_associated | relid=0 | w=32
  1786. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:distinct from pseudopili annulati (613241)
    n1=en:incidence of 1 in 250,000 births | n2=en:distinct from pseudopili annulati (613241) | rel=r_associated | relid=0 | w=32
  1787. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%)
    n1=en:incidence of 1 in 250,000 births | n2=en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%) | rel=r_associated | relid=0 | w=32
  1788. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:dopa-unresponsive
    n1=en:incidence of 1 in 250,000 births | n2=en:dopa-unresponsive | rel=r_associated | relid=0 | w=32
  1789. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:drug-induced dyskinesias occur in a subset of patients
    n1=en:incidence of 1 in 250,000 births | n2=en:drug-induced dyskinesias occur in a subset of patients | rel=r_associated | relid=0 | w=32
  1790. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:dysmorphic facial features are variable
    n1=en:incidence of 1 in 250,000 births | n2=en:dysmorphic facial features are variable | rel=r_associated | relid=0 | w=32
  1791. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:earlier onset may occur
    n1=en:incidence of 1 in 250,000 births | n2=en:earlier onset may occur | rel=r_associated | relid=0 | w=32
  1792. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:early age of onset
    n1=en:incidence of 1 in 250,000 births | n2=en:early age of onset | rel=r_associated | relid=0 | w=32
  1793. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:early death
    n1=en:incidence of 1 in 250,000 births | n2=en:early death | rel=r_associated | relid=0 | w=32
  1794. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:early death due to infection
    n1=en:incidence of 1 in 250,000 births | n2=en:early death due to infection | rel=r_associated | relid=0 | w=32
  1795. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:early death in early adulthood often associated with diverticulitis and intestinal perforation
    n1=en:incidence of 1 in 250,000 births | n2=en:early death in early adulthood often associated with diverticulitis and intestinal perforation | rel=r_associated | relid=0 | w=32
  1796. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:early death may occur due to infection
    n1=en:incidence of 1 in 250,000 births | n2=en:early death may occur due to infection | rel=r_associated | relid=0 | w=32
  1797. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:end-stage renal failure may occur
    n1=en:incidence of 1 in 250,000 births | n2=en:end-stage renal failure may occur | rel=r_associated | relid=0 | w=32
  1798. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:episodes tend to decrease with age
    n1=en:incidence of 1 in 250,000 births | n2=en:episodes tend to decrease with age | rel=r_associated | relid=0 | w=32
  1799. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:episodic
    n1=en:incidence of 1 in 250,000 births | n2=en:episodic | rel=r_associated | relid=0 | w=32
  1800. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:estimated prevalence of 1 in 16,000
    n1=en:incidence of 1 in 250,000 births | n2=en:estimated prevalence of 1 in 16,000 | rel=r_associated | relid=0 | w=32
  1801. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:exacerbation at puberty
    n1=en:incidence of 1 in 250,000 births | n2=en:exacerbation at puberty | rel=r_associated | relid=0 | w=32
  1802. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:exacerbation following stress, decreased food intake, or alcohol use
    n1=en:incidence of 1 in 250,000 births | n2=en:exacerbation following stress, decreased food intake, or alcohol use | rel=r_associated | relid=0 | w=32
  1803. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:excessive postsurgical blood loss
    n1=en:incidence of 1 in 250,000 births | n2=en:excessive postsurgical blood loss | rel=r_associated | relid=0 | w=32
  1804. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:expression more severe in females than males, except for mosaic males
    n1=en:incidence of 1 in 250,000 births | n2=en:expression more severe in females than males, except for mosaic males | rel=r_associated | relid=0 | w=32
  1805. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:extracutaneous manifestations are variable
    n1=en:incidence of 1 in 250,000 births | n2=en:extracutaneous manifestations are variable | rel=r_associated | relid=0 | w=32
  1806. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:extrapyramidal signs show a favorable response to levodopa
    n1=en:incidence of 1 in 250,000 births | n2=en:extrapyramidal signs show a favorable response to levodopa | rel=r_associated | relid=0 | w=32
  1807. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:eye involvement begins at birth, neurologic involvement begins later
    n1=en:incidence of 1 in 250,000 births | n2=en:eye involvement begins at birth, neurologic involvement begins later | rel=r_associated | relid=0 | w=32
  1808. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:familial form
    n1=en:incidence of 1 in 250,000 births | n2=en:familial form | rel=r_associated | relid=0 | w=32
  1809. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:familial form - constitutional deficiency of vwf-cleaving protease
    n1=en:incidence of 1 in 250,000 births | n2=en:familial form - constitutional deficiency of vwf-cleaving protease | rel=r_associated | relid=0 | w=32
  1810. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:fatigue
    n1=en:incidence of 1 in 250,000 births | n2=en:fatigue | rel=r_associated | relid=0 | w=32
  1811. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:favorable initial response to l-dopa
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable initial response to l-dopa | rel=r_associated | relid=0 | w=32
  1812. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:favorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid)
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid) | rel=r_associated | relid=0 | w=32
  1813. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:favorable response to a ketogenic diet
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to a ketogenic diet | rel=r_associated | relid=0 | w=32
  1814. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:favorable response to intermittent, low-dose steroid therapy
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to intermittent, low-dose steroid therapy | rel=r_associated | relid=0 | w=32
  1815. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:favorable response to l-dopa treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to l-dopa treatment | rel=r_associated | relid=0 | w=32
  1816. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:favorable response to rituxan (in some patients)
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to rituxan (in some patients) | rel=r_associated | relid=0 | w=32
  1817. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:favorable response to ursodeoxycholic acid treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to ursodeoxycholic acid treatment | rel=r_associated | relid=0 | w=32
  1818. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build
    n1=en:incidence of 1 in 250,000 births | n2=en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build | rel=r_associated | relid=0 | w=32
  1819. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:female carriers may have mild hearing impairment
    n1=en:incidence of 1 in 250,000 births | n2=en:female carriers may have mild hearing impairment | rel=r_associated | relid=0 | w=32
  1820. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:female mutations carriers have a milder phenotype, with myalgia, calf hypertrophy, or isolated increased serum creatine kinase
    n1=en:incidence of 1 in 250,000 births | 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=32
  1821. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:female predominance (4:1)
    n1=en:incidence of 1 in 250,000 births | n2=en:female predominance (4:1) | rel=r_associated | relid=0 | w=32
  1822. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:five clinical variants of msud unassociated with genotype
    n1=en:incidence of 1 in 250,000 births | n2=en:five clinical variants of msud unassociated with genotype | rel=r_associated | relid=0 | w=32
  1823. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:flow cytometry specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
    n1=en:incidence of 1 in 250,000 births | 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=32
  1824. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:four patients from 3 unrelated families have been reported (last curated july 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:four patients from 3 unrelated families have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=32
  1825. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:four patients have been reported from pakistan (as of march 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:four patients have been reported from pakistan (as of march 2011) | rel=r_associated | relid=0 | w=32
  1826. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form
    n1=en:incidence of 1 in 250,000 births | 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=32
  1827. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:four types of cgd with basically identical clinical phenotypes
    n1=en:incidence of 1 in 250,000 births | n2=en:four types of cgd with basically identical clinical phenotypes | rel=r_associated | relid=0 | w=32
  1828. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:fractures and dental caries and premature secondary tooth loss occur in adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:fractures and dental caries and premature secondary tooth loss occur in adulthood | rel=r_associated | relid=0 | w=32
  1829. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:frequently death in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:frequently death in infancy | rel=r_associated | relid=0 | w=32
  1830. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:frequently occurs in navajo children, especially in western reservations
    n1=en:incidence of 1 in 250,000 births | n2=en:frequently occurs in navajo children, especially in western reservations | rel=r_associated | relid=0 | w=32
  1831. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:gene frequency in northwest puerto rico 1 in 18
    n1=en:incidence of 1 in 250,000 births | n2=en:gene frequency in northwest puerto rico 1 in 18 | rel=r_associated | relid=0 | w=32
  1832. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:generally considered to be a benign disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:generally considered to be a benign disorder | rel=r_associated | relid=0 | w=32
  1833. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see 157640)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see 157640) | rel=r_associated | relid=0 | w=32
  1834. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see 191100)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see 191100) | rel=r_associated | relid=0 | w=32
  1835. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see antenatal bartter syndrome type 2, 241200)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see antenatal bartter syndrome type 2, 241200) | rel=r_associated | relid=0 | w=32
  1836. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see bafme2, 607876)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see bafme2, 607876) | rel=r_associated | relid=0 | w=32
  1837. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see cftd1, 255310)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see cftd1, 255310) | rel=r_associated | relid=0 | w=32
  1838. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see cmt4a 214400)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see cmt4a 214400) | rel=r_associated | relid=0 | w=32
  1839. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see edm1 132400, edm3 600969, edm4 226900, edm5 607078)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see edm1 132400, edm3 600969, edm4 226900, edm5 607078) | rel=r_associated | relid=0 | w=32
  1840. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see feb1 121210)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see feb1 121210) | rel=r_associated | relid=0 | w=32
  1841. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see pfm1, 168500)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see pfm1, 168500) | rel=r_associated | relid=0 | w=32
  1842. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see, e.g., 600795, 105550)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see, e.g., 600795, 105550) | rel=r_associated | relid=0 | w=32
  1843. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (sli2 606712, sli3 607134)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (sli2 606712, sli3 607134) | rel=r_associated | relid=0 | w=32
  1844. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity of axonal cmt (see cmt2a 118210)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity of axonal cmt (see cmt2a 118210) | rel=r_associated | relid=0 | w=32
  1845. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold | rel=r_associated | relid=0 | w=32
  1846. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity, see aprm2 (610422)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity, see aprm2 (610422) | rel=r_associated | relid=0 | w=32
  1847. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity, see lgmd2a (253600)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity, see lgmd2a (253600) | rel=r_associated | relid=0 | w=32
  1848. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity, see, e.g., mgr2 (300125), mgr3 (607498), mgr4 (607501), mgr5 (607508), mgr6 (607516)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity, see, e.g., mgr2 (300125), mgr3 (607498), mgr4 (607501), mgr5 (607508), mgr6 (607516) | rel=r_associated | relid=0 | w=32
  1849. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:great variation in extent of hypertrophy in mutation-positive individuals
    n1=en:incidence of 1 in 250,000 births | n2=en:great variation in extent of hypertrophy in mutation-positive individuals | rel=r_associated | relid=0 | w=32
  1850. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:group b patients die by 3 months of age
    n1=en:incidence of 1 in 250,000 births | n2=en:group b patients die by 3 months of age | rel=r_associated | relid=0 | w=32
  1851. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:hair loss begins in first years of life
    n1=en:incidence of 1 in 250,000 births | n2=en:hair loss begins in first years of life | rel=r_associated | relid=0 | w=32
  1852. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures)
    n1=en:incidence of 1 in 250,000 births | 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=32
  1853. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:hearing loss ma be fluctuating or progressive
    n1=en:incidence of 1 in 250,000 births | n2=en:hearing loss ma be fluctuating or progressive | rel=r_associated | relid=0 | w=32
  1854. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:hematuria may become apparent after respiratory infections (synpharyngitic)
    n1=en:incidence of 1 in 250,000 births | n2=en:hematuria may become apparent after respiratory infections (synpharyngitic) | rel=r_associated | relid=0 | w=32
  1855. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> 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:incidence of 1 in 250,000 births | 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=32
  1856. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (235400)
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (235400) | rel=r_associated | relid=0 | w=32
  1857. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:heterozygous females more mildly affected than hemizygous males
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygous females more mildly affected than hemizygous males | rel=r_associated | relid=0 | w=32
  1858. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:high frequency in finnish population
    n1=en:incidence of 1 in 250,000 births | n2=en:high frequency in finnish population | rel=r_associated | relid=0 | w=32
  1859. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:high occurrence of de novo mutations
    n1=en:incidence of 1 in 250,000 births | n2=en:high occurrence of de novo mutations | rel=r_associated | relid=0 | w=32
  1860. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:highly variable age at onset
    n1=en:incidence of 1 in 250,000 births | n2=en:highly variable age at onset | rel=r_associated | relid=0 | w=32
  1861. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:highly variable frequency and severity of attacks
    n1=en:incidence of 1 in 250,000 births | n2=en:highly variable frequency and severity of attacks | rel=r_associated | relid=0 | w=32
  1862. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:highly variable pathologic phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:highly variable pathologic phenotype | rel=r_associated | relid=0 | w=32
  1863. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del)
    n1=en:incidence of 1 in 250,000 births | 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=32
  1864. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:immunologic defects are variable
    n1=en:incidence of 1 in 250,000 births | n2=en:immunologic defects are variable | rel=r_associated | relid=0 | w=32
  1865. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:immunologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
    n1=en:incidence of 1 in 250,000 births | 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=32
  1866. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:improvement with age
    n1=en:incidence of 1 in 250,000 births | n2=en:improvement with age | rel=r_associated | relid=0 | w=32
  1867. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:incidence 1/1,200-1/15,000 live births
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence 1/1,200-1/15,000 live births | rel=r_associated | relid=0 | w=32
  1868. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:incidence of 1 in 100 in some local nordic areas
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 100 in some local nordic areas | rel=r_associated | relid=0 | w=32
  1869. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:incidence of 1 in 100,000
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 100,000 | rel=r_associated | relid=0 | w=32
  1870. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:incidence of 1 in 120,000 live births
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 120,000 live births | rel=r_associated | relid=0 | w=32
  1871. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:incidence of 1 in 50,000 to 1 in 100,000
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 50,000 to 1 in 100,000 | rel=r_associated | relid=0 | w=32
  1872. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:incidence of mh in anesthetized children is 1 in 15,000
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of mh in anesthetized children is 1 in 15,000 | rel=r_associated | relid=0 | w=32
  1873. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:incidence ranges from 1 in 238,095 to 1 in 300,000 births
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence ranges from 1 in 238,095 to 1 in 300,000 births | rel=r_associated | relid=0 | w=32
  1874. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:incomplete penetrance
    n1=en:incidence of 1 in 250,000 births | n2=en:incomplete penetrance | rel=r_associated | relid=0 | w=32
  1875. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:increased frequency in finland
    n1=en:incidence of 1 in 250,000 births | n2=en:increased frequency in finland | rel=r_associated | relid=0 | w=32
  1876. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:increased frequency in individuals originating from western scotland
    n1=en:incidence of 1 in 250,000 births | n2=en:increased frequency in individuals originating from western scotland | rel=r_associated | relid=0 | w=32
  1877. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:increased morbidity/mortality in affected males
    n1=en:incidence of 1 in 250,000 births | n2=en:increased morbidity/mortality in affected males | rel=r_associated | relid=0 | w=32
  1878. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:increased prevalence in northern finland (7.3/100,000)
    n1=en:incidence of 1 in 250,000 births | n2=en:increased prevalence in northern finland (7.3/100,000) | rel=r_associated | relid=0 | w=32
  1879. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:increased rate of miscarriage in affected individuals
    n1=en:incidence of 1 in 250,000 births | n2=en:increased rate of miscarriage in affected individuals | rel=r_associated | relid=0 | w=32
  1880. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:increased susceptibility to neisseria infections
    n1=en:incidence of 1 in 250,000 births | n2=en:increased susceptibility to neisseria infections | rel=r_associated | relid=0 | w=32
  1881. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:infants are stillborn or die shortly after birth
    n1=en:incidence of 1 in 250,000 births | n2=en:infants are stillborn or die shortly after birth | rel=r_associated | relid=0 | w=32
  1882. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:infants show normal size and appearance
    n1=en:incidence of 1 in 250,000 births | n2=en:infants show normal size and appearance | rel=r_associated | relid=0 | w=32
  1883. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:initially normal rod responses may become significantly reduced at older age
    n1=en:incidence of 1 in 250,000 births | n2=en:initially normal rod responses may become significantly reduced at older age | rel=r_associated | relid=0 | w=32
  1884. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:insidious onset
    n1=en:incidence of 1 in 250,000 births | n2=en:insidious onset | rel=r_associated | relid=0 | w=32
  1885. en:incidence of 1 in 250,000 births -- 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:incidence of 1 in 250,000 births | 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
  1886. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:intrafamilial phenotypic variation may occur
    n1=en:incidence of 1 in 250,000 births | n2=en:intrafamilial phenotypic variation may occur | rel=r_associated | relid=0 | w=32
  1887. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:intrathecal pressure:pressure:point in time:intrathecal space:quantitative
    n1=en:incidence of 1 in 250,000 births | n2=en:intrathecal pressure:pressure:point in time:intrathecal space:quantitative | rel=r_associated | relid=0 | w=32
  1888. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:intrauterine fetal death
    n1=en:incidence of 1 in 250,000 births | n2=en:intrauterine fetal death | rel=r_associated | relid=0 | w=32
  1889. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:isolated finding
    n1=en:incidence of 1 in 250,000 births | n2=en:isolated finding | rel=r_associated | relid=0 | w=32
  1890. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:joint dislocations become less frequent with age
    n1=en:incidence of 1 in 250,000 births | n2=en:joint dislocations become less frequent with age | rel=r_associated | relid=0 | w=32
  1891. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:klippel-feil anomaly may be a part of other syndromes, including murcs (601076) and sprengel deformity (184400)
    n1=en:incidence of 1 in 250,000 births | 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=32
  1892. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:laboratory findings are variable
    n1=en:incidence of 1 in 250,000 births | n2=en:laboratory findings are variable | rel=r_associated | relid=0 | w=32
  1893. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:late-onset, slowly progressing form of retinitis pigmentosa
    n1=en:incidence of 1 in 250,000 births | n2=en:late-onset, slowly progressing form of retinitis pigmentosa | rel=r_associated | relid=0 | w=32
  1894. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:later onset can also occur (up to age 17 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:later onset can also occur (up to age 17 years) | rel=r_associated | relid=0 | w=32
  1895. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:later onset has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:later onset has been reported | rel=r_associated | relid=0 | w=32
  1896. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:later onset in females
    n1=en:incidence of 1 in 250,000 births | n2=en:later onset in females | rel=r_associated | relid=0 | w=32
  1897. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:later onset of hearing loss in some patients
    n1=en:incidence of 1 in 250,000 births | n2=en:later onset of hearing loss in some patients | rel=r_associated | relid=0 | w=32
  1898. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:length of calorie fast:time:point in time:^patient:quantitative
    n1=en:incidence of 1 in 250,000 births | n2=en:length of calorie fast:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=32
  1899. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:less than 20% have onset at 18 years of age or less (dominant and recessive)
    n1=en:incidence of 1 in 250,000 births | n2=en:less than 20% have onset at 18 years of age or less (dominant and recessive) | rel=r_associated | relid=0 | w=32
  1900. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:life-threatening in infancy due to sepsis
    n1=en:incidence of 1 in 250,000 births | n2=en:life-threatening in infancy due to sepsis | rel=r_associated | relid=0 | w=32
  1901. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:loss of tumor suppressor gene
    n1=en:incidence of 1 in 250,000 births | n2=en:loss of tumor suppressor gene | rel=r_associated | relid=0 | w=32
  1902. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:lysosomal storage vacuoles in trachea, liver, cartilage, and heart
    n1=en:incidence of 1 in 250,000 births | n2=en:lysosomal storage vacuoles in trachea, liver, cartilage, and heart | rel=r_associated | relid=0 | w=32
  1903. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:main aspects of phenotype attributed to defects in gtf2ird1 (604318) and gtf2i (601679)
    n1=en:incidence of 1 in 250,000 births | n2=en:main aspects of phenotype attributed to defects in gtf2ird1 (604318) and gtf2i (601679) | rel=r_associated | relid=0 | w=32
  1904. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:majority of patients from italy and southwestern united states
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of patients from italy and southwestern united states | rel=r_associated | relid=0 | w=32
  1905. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:male to female ratio is greater than 3:1
    n1=en:incidence of 1 in 250,000 births | n2=en:male to female ratio is greater than 3:1 | rel=r_associated | relid=0 | w=32
  1906. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:many patients become wheelchair-bound
    n1=en:incidence of 1 in 250,000 births | n2=en:many patients become wheelchair-bound | rel=r_associated | relid=0 | w=32
  1907. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:many patients lose independent mobility after 25 years
    n1=en:incidence of 1 in 250,000 births | n2=en:many patients lose independent mobility after 25 years | rel=r_associated | relid=0 | w=32
  1908. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia
    n1=en:incidence of 1 in 250,000 births | n2=en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia | rel=r_associated | relid=0 | w=32
  1909. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:maternal imprinting
    n1=en:incidence of 1 in 250,000 births | n2=en:maternal imprinting | rel=r_associated | relid=0 | w=32
  1910. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:may be fatal in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:may be fatal in infancy | rel=r_associated | relid=0 | w=32
  1911. en:incidence of 1 in 250,000 births -- 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:incidence of 1 in 250,000 births | 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
  1912. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features
    n1=en:incidence of 1 in 250,000 births | n2=en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features | rel=r_associated | relid=0 | w=32
  1913. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:may occur cormorbidly with poland syndrome (173800)
    n1=en:incidence of 1 in 250,000 births | n2=en:may occur cormorbidly with poland syndrome (173800) | rel=r_associated | relid=0 | w=32
  1914. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:mean age at onset 23.9 years (range 10 to 55 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset 23.9 years (range 10 to 55 years) | rel=r_associated | relid=0 | w=32
  1915. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood)
    n1=en:incidence of 1 in 250,000 births | 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=32
  1916. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:mean age of onset 21 years (range 14-35 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age of onset 21 years (range 14-35 years) | rel=r_associated | relid=0 | w=32
  1917. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> 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:incidence of 1 in 250,000 births | 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=32
  1918. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:melnick-needles syndrome (mns, 309350) is an allelic disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:melnick-needles syndrome (mns, 309350) is an allelic disorder | rel=r_associated | relid=0 | w=32
  1919. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:mesomelia becomes more evident with age
    n1=en:incidence of 1 in 250,000 births | n2=en:mesomelia becomes more evident with age | rel=r_associated | relid=0 | w=32
  1920. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:milder expression in female heterozygotes
    n1=en:incidence of 1 in 250,000 births | n2=en:milder expression in female heterozygotes | rel=r_associated | relid=0 | w=32
  1921. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:milder form with onset in childhood, absence seizures, and learning difficulties
    n1=en:incidence of 1 in 250,000 births | n2=en:milder form with onset in childhood, absence seizures, and learning difficulties | rel=r_associated | relid=0 | w=32
  1922. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:more frequent in males
    n1=en:incidence of 1 in 250,000 births | n2=en:more frequent in males | rel=r_associated | relid=0 | w=32
  1923. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:most common inherited giant platelet disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:most common inherited giant platelet disorder | rel=r_associated | relid=0 | w=32
  1924. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:most common muscle disease of older persons
    n1=en:incidence of 1 in 250,000 births | n2=en:most common muscle disease of older persons | rel=r_associated | relid=0 | w=32
  1925. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:most mutations occur de novo
    n1=en:incidence of 1 in 250,000 births | n2=en:most mutations occur de novo | rel=r_associated | relid=0 | w=32
  1926. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:most patients die of hepatic failure by 9 months of age
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients die of hepatic failure by 9 months of age | rel=r_associated | relid=0 | w=32
  1927. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:most patients remain ambulatory in adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients remain ambulatory in adulthood | rel=r_associated | relid=0 | w=32
  1928. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:most patients retain ambulation with aids
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients retain ambulation with aids | rel=r_associated | relid=0 | w=32
  1929. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:multiorgan failure may result from hs
    n1=en:incidence of 1 in 250,000 births | n2=en:multiorgan failure may result from hs | rel=r_associated | relid=0 | w=32
  1930. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:murcs association
    n1=en:incidence of 1 in 250,000 births | n2=en:murcs association | rel=r_associated | relid=0 | w=32
  1931. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:muscle contractions in infancy occur in response to tactile stimulation or crying
    n1=en:incidence of 1 in 250,000 births | n2=en:muscle contractions in infancy occur in response to tactile stimulation or crying | rel=r_associated | relid=0 | w=32
  1932. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:mutant alleles have 47 to 63 repeats
    n1=en:incidence of 1 in 250,000 births | n2=en:mutant alleles have 47 to 63 repeats | rel=r_associated | relid=0 | w=32
  1933. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:mutation found in 1 puerto rican family (last curated august 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:mutation found in 1 puerto rican family (last curated august 2014) | rel=r_associated | relid=0 | w=32
  1934. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:myoclonus triggered by action, sudden movements, and inadvertent somatosensory stimuli
    n1=en:incidence of 1 in 250,000 births | n2=en:myoclonus triggered by action, sudden movements, and inadvertent somatosensory stimuli | rel=r_associated | relid=0 | w=32
  1935. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:n-myc oncogene (164840) amplification is associated with poor prognosis
    n1=en:incidence of 1 in 250,000 births | n2=en:n-myc oncogene (164840) amplification is associated with poor prognosis | rel=r_associated | relid=0 | w=32
  1936. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:neonatal severe hyperparathyroidism in homozygotes (239200)
    n1=en:incidence of 1 in 250,000 births | n2=en:neonatal severe hyperparathyroidism in homozygotes (239200) | rel=r_associated | relid=0 | w=32
  1937. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:neurologic features occur in adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:neurologic features occur in adulthood | rel=r_associated | relid=0 | w=32
  1938. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:neurologic symptoms are not always present or may appear late
    n1=en:incidence of 1 in 250,000 births | n2=en:neurologic symptoms are not always present or may appear late | rel=r_associated | relid=0 | w=32
  1939. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:neuromuscular forms can present as perinate, infant, child, or adult
    n1=en:incidence of 1 in 250,000 births | n2=en:neuromuscular forms can present as perinate, infant, child, or adult | rel=r_associated | relid=0 | w=32
  1940. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:no dysmorphic features
    n1=en:incidence of 1 in 250,000 births | n2=en:no dysmorphic features | rel=r_associated | relid=0 | w=32
  1941. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:no features consistent with cystic fibrosis found in these patients
    n1=en:incidence of 1 in 250,000 births | n2=en:no features consistent with cystic fibrosis found in these patients | rel=r_associated | relid=0 | w=32
  1942. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:no increased fragility of hair
    n1=en:incidence of 1 in 250,000 births | n2=en:no increased fragility of hair | rel=r_associated | relid=0 | w=32
  1943. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:no phenotype in heterozygotes
    n1=en:incidence of 1 in 250,000 births | n2=en:no phenotype in heterozygotes | rel=r_associated | relid=0 | w=32
  1944. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats
    n1=en:incidence of 1 in 250,000 births | n2=en:normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats | rel=r_associated | relid=0 | w=32
  1945. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:obligatory heterozygotes are clinically unaffected
    n1=en:incidence of 1 in 250,000 births | n2=en:obligatory heterozygotes are clinically unaffected | rel=r_associated | relid=0 | w=32
  1946. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:occurs in about 1 in 10,000 births
    n1=en:incidence of 1 in 250,000 births | n2=en:occurs in about 1 in 10,000 births | rel=r_associated | relid=0 | w=32
  1947. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:often identified in newborn period
    n1=en:incidence of 1 in 250,000 births | n2=en:often identified in newborn period | rel=r_associated | relid=0 | w=32
  1948. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:one brazilian family with 12 affected individuals reported (last curated february 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one brazilian family with 12 affected individuals reported (last curated february 2014) | rel=r_associated | relid=0 | w=32
  1949. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:one chinese family has been reported (last curated october 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one chinese family has been reported (last curated october 2012) | rel=r_associated | relid=0 | w=32
  1950. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:one consanguineous pakistani family has been reported (as of january 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one consanguineous pakistani family has been reported (as of january 2012) | rel=r_associated | relid=0 | w=32
  1951. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:one consanguineous senegalese family has been reported (last curated december 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one consanguineous senegalese family has been reported (last curated december 2014) | rel=r_associated | relid=0 | w=32
  1952. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:one family from punjab, india has been reported (last curated august 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family from punjab, india has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=32
  1953. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:one family has been reported (last curated april 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (last curated april 2014) | rel=r_associated | relid=0 | w=32
  1954. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:one family with 2 affected brothers has been reported (last curated november 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family with 2 affected brothers has been reported (last curated november 2012) | rel=r_associated | relid=0 | w=32
  1955. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:one family with a confirmed dcaf8 mutation has been reported (last curated june, 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family with a confirmed dcaf8 mutation has been reported (last curated june, 2014) | rel=r_associated | relid=0 | w=32
  1956. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:one french family has been reported (last curated july 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one french family has been reported (last curated july 2014) | rel=r_associated | relid=0 | w=32
  1957. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:one french family has been reported (last curated march 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one french family has been reported (last curated march 2013) | rel=r_associated | relid=0 | w=32
  1958. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:one german family has been reported (as of september 2009)
    n1=en:incidence of 1 in 250,000 births | n2=en:one german family has been reported (as of september 2009) | rel=r_associated | relid=0 | w=32
  1959. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:one living patient and 1 unrelated fetus have been reported (last curated august, 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one living patient and 1 unrelated fetus have been reported (last curated august, 2014) | rel=r_associated | relid=0 | w=32
  1960. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:one male and 3 unrelated females have been reported (last curated october 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one male and 3 unrelated females have been reported (last curated october 2013) | rel=r_associated | relid=0 | w=32
  1961. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:one patient had onset at birth and a more severe disorder resulting in death at a young age
    n1=en:incidence of 1 in 250,000 births | 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=32
  1962. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:one patient who died at 5.5 months of age has been reported (last curated december 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient who died at 5.5 months of age has been reported (last curated december 2012) | rel=r_associated | relid=0 | w=32
  1963. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:one report of brother and sister from nonconsanguineous parents
    n1=en:incidence of 1 in 250,000 births | n2=en:one report of brother and sister from nonconsanguineous parents | rel=r_associated | relid=0 | w=32
  1964. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:one report of mother and son (last curated august 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one report of mother and son (last curated august 2012) | rel=r_associated | relid=0 | w=32
  1965. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:one turkish girl has been reported (last curated april 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one turkish girl has been reported (last curated april 2013) | rel=r_associated | relid=0 | w=32
  1966. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset 1-70 years of age (95% by early 50's)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset 1-70 years of age (95% by early 50's) | rel=r_associated | relid=0 | w=32
  1967. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset 13 to 63 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset 13 to 63 years of age | rel=r_associated | relid=0 | w=32
  1968. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset 3 months of age up to 5 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset 3 months of age up to 5 years | rel=r_associated | relid=0 | w=32
  1969. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset around age 2 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset around age 2 years | rel=r_associated | relid=0 | w=32
  1970. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset at 4 to 9 weeks of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset at 4 to 9 weeks of age | rel=r_associated | relid=0 | w=32
  1971. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset at 6-9 months
    n1=en:incidence of 1 in 250,000 births | n2=en:onset at 6-9 months | rel=r_associated | relid=0 | w=32
  1972. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset before age 5 years in the absence of instruction
    n1=en:incidence of 1 in 250,000 births | n2=en:onset before age 5 years in the absence of instruction | rel=r_associated | relid=0 | w=32
  1973. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset between 13 to 37 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between 13 to 37 years | rel=r_associated | relid=0 | w=32
  1974. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset between 2-5 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between 2-5 years | rel=r_associated | relid=0 | w=32
  1975. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset between 5 to 28 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between 5 to 28 years of age | rel=r_associated | relid=0 | w=32
  1976. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset between 7 and 27 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between 7 and 27 years of age | rel=r_associated | relid=0 | w=32
  1977. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset between 9 and 16 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between 9 and 16 years | rel=r_associated | relid=0 | w=32
  1978. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset birth to 6 months
    n1=en:incidence of 1 in 250,000 births | n2=en:onset birth to 6 months | rel=r_associated | relid=0 | w=32
  1979. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset in 1st to 3rd decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in 1st to 3rd decade of life | rel=r_associated | relid=0 | w=32
  1980. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset in childhood (mean age 10 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood (mean age 10 years) | rel=r_associated | relid=0 | w=32
  1981. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset in childhood (range infancy to 10 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood (range infancy to 10 years) | rel=r_associated | relid=0 | w=32
  1982. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset in childhood or as young adult
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood or as young adult | rel=r_associated | relid=0 | w=32
  1983. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset in early infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in early infancy | rel=r_associated | relid=0 | w=32
  1984. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset in first hours to days of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in first hours to days of life | rel=r_associated | relid=0 | w=32
  1985. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset in infancy (3 months on)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in infancy (3 months on) | rel=r_associated | relid=0 | w=32
  1986. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset in infancy and third decade had been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in infancy and third decade had been reported | rel=r_associated | relid=0 | w=32
  1987. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset in infancy or childhood (range 1 to 6 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in infancy or childhood (range 1 to 6 years) | rel=r_associated | relid=0 | w=32
  1988. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset in late childhood or adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in late childhood or adulthood | rel=r_associated | relid=0 | w=32
  1989. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset in late childhood or early teens
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in late childhood or early teens | rel=r_associated | relid=0 | w=32
  1990. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset in mid to late childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in mid to late childhood | rel=r_associated | relid=0 | w=32
  1991. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset in the first hours or days of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in the first hours or days of life | rel=r_associated | relid=0 | w=32
  1992. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset in third decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in third decade | rel=r_associated | relid=0 | w=32
  1993. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset in third or fourth decades
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in third or fourth decades | rel=r_associated | relid=0 | w=32
  1994. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset of acanthosis nigricans correlates with onset of diabetes
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of acanthosis nigricans correlates with onset of diabetes | rel=r_associated | relid=0 | w=32
  1995. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset of bleeding in infancy or early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of bleeding in infancy or early childhood | rel=r_associated | relid=0 | w=32
  1996. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset of choroideremia in second to third decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of choroideremia in second to third decade | rel=r_associated | relid=0 | w=32
  1997. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset of disease after fourth decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of disease after fourth decade of life | rel=r_associated | relid=0 | w=32
  1998. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset of gastrointestinal tumors typically occurs in the second decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of gastrointestinal tumors typically occurs in the second decade | rel=r_associated | relid=0 | w=32
  1999. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset of linear striations between 5 months and 6 years (only in affected females)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of linear striations between 5 months and 6 years (only in affected females) | rel=r_associated | relid=0 | w=32
  2000. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset of lymphedema before puberty
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of lymphedema before puberty | rel=r_associated | relid=0 | w=32
  2001. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset of muscle weakness around age 5 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of muscle weakness around age 5 years | rel=r_associated | relid=0 | w=32
  2002. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood | rel=r_associated | relid=0 | w=32
  2003. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset of seizures at 2-8 days of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of seizures at 2-8 days of life | rel=r_associated | relid=0 | w=32
  2004. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset of sensory neuropathy in later adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of sensory neuropathy in later adulthood | rel=r_associated | relid=0 | w=32
  2005. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset of symptoms in second decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of symptoms in second decade of life | rel=r_associated | relid=0 | w=32
  2006. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset of symptoms usually between 12-15 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of symptoms usually between 12-15 years | rel=r_associated | relid=0 | w=32
  2007. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset usually at birth, but may occur later
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually at birth, but may occur later | rel=r_associated | relid=0 | w=32
  2008. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset usually in childhood (1 to 9 years of age)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in childhood (1 to 9 years of age) | rel=r_associated | relid=0 | w=32
  2009. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset usually in first decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in first decade | rel=r_associated | relid=0 | w=32
  2010. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset usually in infancy or early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in infancy or early childhood | rel=r_associated | relid=0 | w=32
  2011. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset usually in infancy or early childhood (9 months to 6 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in infancy or early childhood (9 months to 6 years) | rel=r_associated | relid=0 | w=32
  2012. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset usually in the neonatal period although later onset has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in the neonatal period although later onset has been reported | rel=r_associated | relid=0 | w=32
  2013. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:onset within first 2 years of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset within first 2 years of life | rel=r_associated | relid=0 | w=32
  2014. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:other features of neurofibromatosis type i (nf1, 162200) may or may not be present
    n1=en:incidence of 1 in 250,000 births | n2=en:other features of neurofibromatosis type i (nf1, 162200) may or may not be present | rel=r_associated | relid=0 | w=32
  2015. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:other half show head circumference more retarded than height
    n1=en:incidence of 1 in 250,000 births | n2=en:other half show head circumference more retarded than height | rel=r_associated | relid=0 | w=32
  2016. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:patients are often of mediterranean origin
    n1=en:incidence of 1 in 250,000 births | n2=en:patients are often of mediterranean origin | rel=r_associated | relid=0 | w=32
  2017. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root
    n1=en:incidence of 1 in 250,000 births | n2=en:patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root | rel=r_associated | relid=0 | w=32
  2018. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:patients present at birth with respiratory distress or poor head control
    n1=en:incidence of 1 in 250,000 births | n2=en:patients present at birth with respiratory distress or poor head control | rel=r_associated | relid=0 | w=32
  2019. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:patients with autosomal dominant inheritance and a single gdap1 mutation have a less severe course with later onset
    n1=en:incidence of 1 in 250,000 births | 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=32
  2020. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:patients with later onset do not have dysmorphic features
    n1=en:incidence of 1 in 250,000 births | n2=en:patients with later onset do not have dysmorphic features | rel=r_associated | relid=0 | w=32
  2021. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:patients with mutations in the chrne gene have a milder phenotype because fetal chrng (100730) exhibits phenotypic rescue
    n1=en:incidence of 1 in 250,000 births | n2=en:patients with mutations in the chrne gene have a milder phenotype because fetal chrng (100730) exhibits phenotypic rescue | rel=r_associated | relid=0 | w=32
  2022. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:patients with variant cjd are homozygous for met129 polymorphism (176640.0005)
    n1=en:incidence of 1 in 250,000 births | n2=en:patients with variant cjd are homozygous for met129 polymorphism (176640.0005) | rel=r_associated | relid=0 | w=32
  2023. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:pcd is a distinct disorder from premature chromatid separation (pcs, 176430), which occurs in all chromosomes
    n1=en:incidence of 1 in 250,000 births | n2=en:pcd is a distinct disorder from premature chromatid separation (pcs, 176430), which occurs in all chromosomes | rel=r_associated | relid=0 | w=32
  2024. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:peak age of onset in second decade (range childhood to 50 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:peak age of onset in second decade (range childhood to 50 years) | rel=r_associated | relid=0 | w=32
  2025. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:peak age of onset in second decade (range childhood to 76 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:peak age of onset in second decade (range childhood to 76 years) | rel=r_associated | relid=0 | w=32
  2026. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:pedigrees compatible with autosomal dominant inheritance have been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:pedigrees compatible with autosomal dominant inheritance have been reported | rel=r_associated | relid=0 | w=32
  2027. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:perinatal lethal
    n1=en:incidence of 1 in 250,000 births | n2=en:perinatal lethal | rel=r_associated | relid=0 | w=32
  2028. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:perinatal mortality
    n1=en:incidence of 1 in 250,000 births | n2=en:perinatal mortality | rel=r_associated | relid=0 | w=32
  2029. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> 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:incidence of 1 in 250,000 births | 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=32
  2030. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:phenotypic overlap with cytochrome c oxidase deficiency (220110)
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic overlap with cytochrome c oxidase deficiency (220110) | rel=r_associated | relid=0 | w=32
  2031. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:phenotypic overlap with munke syndrome (602849) due to a mutation in the fgfr3 gene (p250r, 134934.0014)
    n1=en:incidence of 1 in 250,000 births | 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=32
  2032. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:pigment does not develop with age
    n1=en:incidence of 1 in 250,000 births | n2=en:pigment does not develop with age | rel=r_associated | relid=0 | w=32
  2033. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:poor outcome
    n1=en:incidence of 1 in 250,000 births | n2=en:poor outcome | rel=r_associated | relid=0 | w=32
  2034. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:poor response to g-csf treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:poor response to g-csf treatment | rel=r_associated | relid=0 | w=32
  2035. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:possible x-linked recessive inheritance
    n1=en:incidence of 1 in 250,000 births | n2=en:possible x-linked recessive inheritance | rel=r_associated | relid=0 | w=32
  2036. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:precipitated by febrile illness and fasting
    n1=en:incidence of 1 in 250,000 births | n2=en:precipitated by febrile illness and fasting | rel=r_associated | relid=0 | w=32
  2037. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:prelingual onset
    n1=en:incidence of 1 in 250,000 births | n2=en:prelingual onset | rel=r_associated | relid=0 | w=32
  2038. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:presentation between 6-18 months
    n1=en:incidence of 1 in 250,000 births | n2=en:presentation between 6-18 months | rel=r_associated | relid=0 | w=32
  2039. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:presenting symptoms in the upper body
    n1=en:incidence of 1 in 250,000 births | n2=en:presenting symptoms in the upper body | rel=r_associated | relid=0 | w=32
  2040. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:presents at a later stage than sporadic wilms tumor
    n1=en:incidence of 1 in 250,000 births | n2=en:presents at a later stage than sporadic wilms tumor | rel=r_associated | relid=0 | w=32
  2041. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:prevalence in sardinia is 1 in 14,000
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence in sardinia is 1 in 14,000 | rel=r_associated | relid=0 | w=32
  2042. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:prevalence of 1 in 200,000 to 1 in 800,000
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 1 in 200,000 to 1 in 800,000 | rel=r_associated | relid=0 | w=32
  2043. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:prevalence of 1 in 40,000
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 1 in 40,000 | rel=r_associated | relid=0 | w=32
  2044. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:prevalence of 1 in 70,000
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 1 in 70,000 | rel=r_associated | relid=0 | w=32
  2045. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:prevalence of sleep terrors less than 1% in adults
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of sleep terrors less than 1% in adults | rel=r_associated | relid=0 | w=32
  2046. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:prevalence of sleepwalking up to 26% in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of sleepwalking up to 26% in childhood | rel=r_associated | relid=0 | w=32
  2047. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:prevalence ranges from 1 in 12,000 to 1 in 50,000
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence ranges from 1 in 12,000 to 1 in 50,000 | rel=r_associated | relid=0 | w=32
  2048. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:prevalent among patients of asian descent, particularly japanese
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalent among patients of asian descent, particularly japanese | rel=r_associated | relid=0 | w=32
  2049. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:prevalent in north africa
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalent in north africa | rel=r_associated | relid=0 | w=32
  2050. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:progressive disease
    n1=en:incidence of 1 in 250,000 births | n2=en:progressive disease | rel=r_associated | relid=0 | w=32
  2051. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:rare adult cases reported
    n1=en:incidence of 1 in 250,000 births | n2=en:rare adult cases reported | rel=r_associated | relid=0 | w=32
  2052. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:rarely reported in infants
    n1=en:incidence of 1 in 250,000 births | n2=en:rarely reported in infants | rel=r_associated | relid=0 | w=32
  2053. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:rash, edema, and arthralgia may occur during crisis
    n1=en:incidence of 1 in 250,000 births | n2=en:rash, edema, and arthralgia may occur during crisis | rel=r_associated | relid=0 | w=32
  2054. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:recurrent acute episodes of neurologic deterioration associated with febrile illnesses
    n1=en:incidence of 1 in 250,000 births | n2=en:recurrent acute episodes of neurologic deterioration associated with febrile illnesses | rel=r_associated | relid=0 | w=32
  2055. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:recurrent bacterial, viral, and fungal infections
    n1=en:incidence of 1 in 250,000 births | n2=en:recurrent bacterial, viral, and fungal infections | rel=r_associated | relid=0 | w=32
  2056. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:reduced penetrance (approximately 87%)
    n1=en:incidence of 1 in 250,000 births | n2=en:reduced penetrance (approximately 87%) | rel=r_associated | relid=0 | w=32
  2057. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:response to acetazolamide
    n1=en:incidence of 1 in 250,000 births | n2=en:response to acetazolamide | rel=r_associated | relid=0 | w=32
  2058. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:reticulate acropigmentation of kitamura (hyperpigmentation found primarily in hands and feet)
    n1=en:incidence of 1 in 250,000 births | n2=en:reticulate acropigmentation of kitamura (hyperpigmentation found primarily in hands and feet) | rel=r_associated | relid=0 | w=32
  2059. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:retinitis punctata albescens and macular degeneration starting in late childhood to early teens
    n1=en:incidence of 1 in 250,000 births | n2=en:retinitis punctata albescens and macular degeneration starting in late childhood to early teens | rel=r_associated | relid=0 | w=32
  2060. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:rickets and premature primary tooth loss occur in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:rickets and premature primary tooth loss occur in childhood | rel=r_associated | relid=0 | w=32
  2061. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:see 255160 for an autosomal recessive form
    n1=en:incidence of 1 in 250,000 births | n2=en:see 255160 for an autosomal recessive form | rel=r_associated | relid=0 | w=32
  2062. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:see 607731 for an autosomal recessive form
    n1=en:incidence of 1 in 250,000 births | n2=en:see 607731 for an autosomal recessive form | rel=r_associated | relid=0 | w=32
  2063. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:see also autosomal dominant sick sinus syndrome (163800)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also autosomal dominant sick sinus syndrome (163800) | rel=r_associated | relid=0 | w=32
  2064. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:see also cblc (277400)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also cblc (277400) | rel=r_associated | relid=0 | w=32
  2065. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:see also da2b (601680), which is an allelic disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:see also da2b (601680), which is an allelic disorder | rel=r_associated | relid=0 | w=32
  2066. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:see also dyssegmental dysplasia, silverman-handmaker type (224410)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also dyssegmental dysplasia, silverman-handmaker type (224410) | rel=r_associated | relid=0 | w=32
  2067. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:see also facial hemihypertrophy (133900)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also facial hemihypertrophy (133900) | rel=r_associated | relid=0 | w=32
  2068. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:see also familial cold autoinflammatory syndrome (120100), an allelic disorder with overlapping features
    n1=en:incidence of 1 in 250,000 births | n2=en:see also familial cold autoinflammatory syndrome (120100), an allelic disorder with overlapping features | rel=r_associated | relid=0 | w=32
  2069. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:see also more severe phenotype peeling skin syndrome (270300)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also more severe phenotype peeling skin syndrome (270300) | rel=r_associated | relid=0 | w=32
  2070. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features
    n1=en:incidence of 1 in 250,000 births | n2=en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features | rel=r_associated | relid=0 | w=32
  2071. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:see also perinatal lethal variant (608013), which is more severe
    n1=en:incidence of 1 in 250,000 births | n2=en:see also perinatal lethal variant (608013), which is more severe | rel=r_associated | relid=0 | w=32
  2072. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:see also the non-herlitz type of jeb (226650), a less severe disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:see also the non-herlitz type of jeb (226650), a less severe disorder | rel=r_associated | relid=0 | w=32
  2073. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:see joubert syndrome 7 (611560), an allelic disorder with a less severe phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:see joubert syndrome 7 (611560), an allelic disorder with a less severe phenotype | rel=r_associated | relid=0 | w=32
  2074. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:seizures and cognitive involvement are variable findings
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures and cognitive involvement are variable findings | rel=r_associated | relid=0 | w=32
  2075. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:seizures are easily controlled by medications
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures are easily controlled by medications | rel=r_associated | relid=0 | w=32
  2076. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:seizures are provoked by immersion in hot or warm water
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures are provoked by immersion in hot or warm water | rel=r_associated | relid=0 | w=32
  2077. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:seizures are usually refractory
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures are usually refractory | rel=r_associated | relid=0 | w=32
  2078. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause | rel=r_associated | relid=0 | w=32
  2079. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:seizures recur in 33% of patients
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures recur in 33% of patients | rel=r_associated | relid=0 | w=32
  2080. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:seizures remit in early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures remit in early childhood | rel=r_associated | relid=0 | w=32
  2081. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:service comment 17:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=32
  2082. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:service comment 25:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=32
  2083. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:service comment 27:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=32
  2084. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:service comment 31:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=32
  2085. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:service comment 48:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=32
  2086. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:service comment 63:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=32
  2087. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:service comment 64:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=32
  2088. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:service comment 72:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=32
  2089. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:service comment 76:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=32
  2090. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:severe phenotype onset - neonate
    n1=en:incidence of 1 in 250,000 births | n2=en:severe phenotype onset - neonate | rel=r_associated | relid=0 | w=32
  2091. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:sex ratio - 2 females to 1 male
    n1=en:incidence of 1 in 250,000 births | n2=en:sex ratio - 2 females to 1 male | rel=r_associated | relid=0 | w=32
  2092. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:similar disorder to x-linked pelizaeus-merzbacher disease (pmd, 312080)
    n1=en:incidence of 1 in 250,000 births | n2=en:similar disorder to x-linked pelizaeus-merzbacher disease (pmd, 312080) | rel=r_associated | relid=0 | w=32
  2093. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:six genetically confirmed patients have been reported (as of december 2009)
    n1=en:incidence of 1 in 250,000 births | n2=en:six genetically confirmed patients have been reported (as of december 2009) | rel=r_associated | relid=0 | w=32
  2094. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:six patients have been reported (as of july 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:six patients have been reported (as of july 2011) | rel=r_associated | relid=0 | w=32
  2095. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:skewed x-inactivation in carriers
    n1=en:incidence of 1 in 250,000 births | n2=en:skewed x-inactivation in carriers | rel=r_associated | relid=0 | w=32
  2096. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:skin lesions are primarily trauma-induced but occasionally appear spontaneously
    n1=en:incidence of 1 in 250,000 births | n2=en:skin lesions are primarily trauma-induced but occasionally appear spontaneously | rel=r_associated | relid=0 | w=32
  2097. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:skin lesions worsen with heat or sun exposure
    n1=en:incidence of 1 in 250,000 births | n2=en:skin lesions worsen with heat or sun exposure | rel=r_associated | relid=0 | w=32
  2098. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:skin wrinkling improves with age
    n1=en:incidence of 1 in 250,000 births | n2=en:skin wrinkling improves with age | rel=r_associated | relid=0 | w=32
  2099. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:slowly or nonprogressive
    n1=en:incidence of 1 in 250,000 births | n2=en:slowly or nonprogressive | rel=r_associated | relid=0 | w=32
  2100. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:somatic or germline mosaicism may occur
    n1=en:incidence of 1 in 250,000 births | n2=en:somatic or germline mosaicism may occur | rel=r_associated | relid=0 | w=32
  2101. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:some affected individuals have normal subsequent development
    n1=en:incidence of 1 in 250,000 births | n2=en:some affected individuals have normal subsequent development | rel=r_associated | relid=0 | w=32
  2102. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:some features may be progressive
    n1=en:incidence of 1 in 250,000 births | n2=en:some features may be progressive | rel=r_associated | relid=0 | w=32
  2103. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:some mutation carriers have mild features of frontonasal dysplasia (613451)
    n1=en:incidence of 1 in 250,000 births | n2=en:some mutation carriers have mild features of frontonasal dysplasia (613451) | rel=r_associated | relid=0 | w=32
  2104. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:some patients can be treated with large doses of vitamin d and calcium
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients can be treated with large doses of vitamin d and calcium | rel=r_associated | relid=0 | w=32
  2105. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:some patients do not have dysmorphic features
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients do not have dysmorphic features | rel=r_associated | relid=0 | w=32
  2106. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:some patients have a secreted but biologically inactive mutant leptin
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients have a secreted but biologically inactive mutant leptin | rel=r_associated | relid=0 | w=32
  2107. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:some patients have milder phenotype with later onset of symptoms, in second to third decades of life
    n1=en:incidence of 1 in 250,000 births | 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=32
  2108. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:some patients have no manifestations
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients have no manifestations | rel=r_associated | relid=0 | w=32
  2109. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis | rel=r_associated | relid=0 | w=32
  2110. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:some patients may die in infancy, whereas others survive into adulthood and are only mildly affected or essentially clinically asymptomatic
    n1=en:incidence of 1 in 250,000 births | 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=32
  2111. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:some patients may have a milder phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may have a milder phenotype | rel=r_associated | relid=0 | w=32
  2112. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:some patients may have normal brain imaging
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may have normal brain imaging | rel=r_associated | relid=0 | w=32
  2113. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:some patients may have normal psychomotor development
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may have normal psychomotor development | rel=r_associated | relid=0 | w=32
  2114. en:incidence of 1 in 250,000 births -- 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:incidence of 1 in 250,000 births | 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
  2115. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:some patients may not achieve walking
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may not achieve walking | rel=r_associated | relid=0 | w=32
  2116. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:some patients present with spasticity, whereas others present with cerebellar ataxia
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients present with spasticity, whereas others present with cerebellar ataxia | rel=r_associated | relid=0 | w=32
  2117. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:some patients show no bleeding abnormalities
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients show no bleeding abnormalities | rel=r_associated | relid=0 | w=32
  2118. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:some pedigrees are consistent with autosomal dominant inheritance
    n1=en:incidence of 1 in 250,000 births | n2=en:some pedigrees are consistent with autosomal dominant inheritance | rel=r_associated | relid=0 | w=32
  2119. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:spasticity is slowly progressive
    n1=en:incidence of 1 in 250,000 births | n2=en:spasticity is slowly progressive | rel=r_associated | relid=0 | w=32
  2120. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14
    n1=en:incidence of 1 in 250,000 births | n2=en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14 | rel=r_associated | relid=0 | w=32
  2121. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:spontaneous resorption (rare)
    n1=en:incidence of 1 in 250,000 births | n2=en:spontaneous resorption (rare) | rel=r_associated | relid=0 | w=32
  2122. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:static, nonprogressive disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:static, nonprogressive disorder | rel=r_associated | relid=0 | w=32
  2123. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:subclavian artery supply disruption in embryogenesis has been suggested as etiology
    n1=en:incidence of 1 in 250,000 births | n2=en:subclavian artery supply disruption in embryogenesis has been suggested as etiology | rel=r_associated | relid=0 | w=32
  2124. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:subset of patients have cytochrome c oxidase deficiency (see 220110)
    n1=en:incidence of 1 in 250,000 births | n2=en:subset of patients have cytochrome c oxidase deficiency (see 220110) | rel=r_associated | relid=0 | w=32
  2125. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:subtype 3a comprises myoclonus and dementia
    n1=en:incidence of 1 in 250,000 births | n2=en:subtype 3a comprises myoclonus and dementia | rel=r_associated | relid=0 | w=32
  2126. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:successful treatment with oral isotretinoin
    n1=en:incidence of 1 in 250,000 births | n2=en:successful treatment with oral isotretinoin | rel=r_associated | relid=0 | w=32
  2127. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:survival past infancy is rare
    n1=en:incidence of 1 in 250,000 births | n2=en:survival past infancy is rare | rel=r_associated | relid=0 | w=32
  2128. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele (182940)
    n1=en:incidence of 1 in 250,000 births | n2=en:symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele (182940) | rel=r_associated | relid=0 | w=32
  2129. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:symptoms ameliorate with age
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms ameliorate with age | rel=r_associated | relid=0 | w=32
  2130. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:symptoms benefit from sleep
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms benefit from sleep | rel=r_associated | relid=0 | w=32
  2131. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:symptoms can be prevented by strict dietary restriction
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms can be prevented by strict dietary restriction | rel=r_associated | relid=0 | w=32
  2132. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:symptoms highly variable - rapidly progressive course leading to hepatic failure versus acute hepatic crisis
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms highly variable - rapidly progressive course leading to hepatic failure versus acute hepatic crisis | rel=r_associated | relid=0 | w=32
  2133. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:systemic iron overload due to ineffective erythropoiesis
    n1=en:incidence of 1 in 250,000 births | n2=en:systemic iron overload due to ineffective erythropoiesis | rel=r_associated | relid=0 | w=32
  2134. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:the frequency is estimated at 1/20,000 to 1/50,000 births
    n1=en:incidence of 1 in 250,000 births | n2=en:the frequency is estimated at 1/20,000 to 1/50,000 births | rel=r_associated | relid=0 | w=32
  2135. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:thiamine supplementation may be beneficial
    n1=en:incidence of 1 in 250,000 births | n2=en:thiamine supplementation may be beneficial | rel=r_associated | relid=0 | w=32
  2136. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:this patient died at age 2 years
    n1=en:incidence of 1 in 250,000 births | n2=en:this patient died at age 2 years | rel=r_associated | relid=0 | w=32
  2137. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:three families have been reported (as of 28 june 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:three families have been reported (as of 28 june 2011) | rel=r_associated | relid=0 | w=32
  2138. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:three families have been reported (last curated november 2010)
    n1=en:incidence of 1 in 250,000 births | n2=en:three families have been reported (last curated november 2010) | rel=r_associated | relid=0 | w=32
  2139. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:three major clinical forms are apparent
    n1=en:incidence of 1 in 250,000 births | n2=en:three major clinical forms are apparent | rel=r_associated | relid=0 | w=32
  2140. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:three unrelated boys have been reported (as of july 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:three unrelated boys have been reported (as of july 2011) | rel=r_associated | relid=0 | w=32
  2141. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:three unrelated patients have been reported (last curated september 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:three unrelated patients have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=32
  2142. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:treatment with folinic acid offers some benefit for anemia and seizure control
    n1=en:incidence of 1 in 250,000 births | n2=en:treatment with folinic acid offers some benefit for anemia and seizure control | rel=r_associated | relid=0 | w=32
  2143. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age
    n1=en:incidence of 1 in 250,000 births | n2=en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age | rel=r_associated | relid=0 | w=32
  2144. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects
    n1=en:incidence of 1 in 250,000 births | n2=en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects | rel=r_associated | relid=0 | w=32
  2145. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:tremors develop after seizures
    n1=en:incidence of 1 in 250,000 births | n2=en:tremors develop after seizures | rel=r_associated | relid=0 | w=32
  2146. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:two families described (last curated november 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:two families described (last curated november 2013) | rel=r_associated | relid=0 | w=32
  2147. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:two families have been reported (last curated april 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two families have been reported (last curated april 2014) | rel=r_associated | relid=0 | w=32
  2148. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:two families reported with 2 sibs each (last curated october 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two families reported with 2 sibs each (last curated october 2012) | rel=r_associated | relid=0 | w=32
  2149. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=32
  2150. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:two japanese families have been reported (as of february 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two japanese families have been reported (as of february 2012) | rel=r_associated | relid=0 | w=32
  2151. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:two main phenotypes, severe and mild
    n1=en:incidence of 1 in 250,000 births | n2=en:two main phenotypes, severe and mild | rel=r_associated | relid=0 | w=32
  2152. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:two pakistani families with a homozygous crybb3 mutation have been reported (last curated august 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two pakistani families with a homozygous crybb3 mutation have been reported (last curated august 2014) | rel=r_associated | relid=0 | w=32
  2153. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:two patients with point mutations in rad21 have been reported (last curated july 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two patients with point mutations in rad21 have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=32
  2154. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:two unrelated families have been reported (last curated august 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated families have been reported (last curated august 2013) | rel=r_associated | relid=0 | w=32
  2155. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:two unrelated families have been reported (last curated may 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated families have been reported (last curated may 2013) | rel=r_associated | relid=0 | w=32
  2156. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:two unrelated patients have been reported (last curated april 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients have been reported (last curated april 2014) | rel=r_associated | relid=0 | w=32
  2157. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:two unrelated patients have been reported (last curated january 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=32
  2158. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:two unrelated patients have been reported (last curated june 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients have been reported (last curated june 2012) | rel=r_associated | relid=0 | w=32
  2159. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:type 1 - associated with osteogenesis imperfecta (125490)
    n1=en:incidence of 1 in 250,000 births | n2=en:type 1 - associated with osteogenesis imperfecta (125490) | rel=r_associated | relid=0 | w=32
  2160. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:type 3: craniosynostosis, early demise, sporadic
    n1=en:incidence of 1 in 250,000 births | n2=en:type 3: craniosynostosis, early demise, sporadic | rel=r_associated | relid=0 | w=32
  2161. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:type b characterized by dementia, motor disturbances, and facial dyskinesia
    n1=en:incidence of 1 in 250,000 births | n2=en:type b characterized by dementia, motor disturbances, and facial dyskinesia | rel=r_associated | relid=0 | w=32
  2162. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:type iiia has both liver and muscle involvement
    n1=en:incidence of 1 in 250,000 births | n2=en:type iiia has both liver and muscle involvement | rel=r_associated | relid=0 | w=32
  2163. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:ultrasound detection in second trimester of pregnancy
    n1=en:incidence of 1 in 250,000 births | n2=en:ultrasound detection in second trimester of pregnancy | rel=r_associated | relid=0 | w=32
  2164. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:unusual cabbage-like odor
    n1=en:incidence of 1 in 250,000 births | n2=en:unusual cabbage-like odor | rel=r_associated | relid=0 | w=32
  2165. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:upper urinary tract usually normal
    n1=en:incidence of 1 in 250,000 births | n2=en:upper urinary tract usually normal | rel=r_associated | relid=0 | w=32
  2166. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:usually affects children
    n1=en:incidence of 1 in 250,000 births | n2=en:usually affects children | rel=r_associated | relid=0 | w=32
  2167. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:usually asymptomatic
    n1=en:incidence of 1 in 250,000 births | n2=en:usually asymptomatic | rel=r_associated | relid=0 | w=32
  2168. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:usually fatal by age 5 years
    n1=en:incidence of 1 in 250,000 births | n2=en:usually fatal by age 5 years | rel=r_associated | relid=0 | w=32
  2169. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:usually fatal in first 2 decades
    n1=en:incidence of 1 in 250,000 births | n2=en:usually fatal in first 2 decades | rel=r_associated | relid=0 | w=32
  2170. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:usually symptomatic in adulthood with history of weakness since infancy or childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=32
  2171. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:variable age at onset (range 2 to 59 years, mean 24 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (range 2 to 59 years, mean 24 years) | rel=r_associated | relid=0 | w=32
  2172. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:variable age at onset from childhood to adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset from childhood to adulthood | rel=r_associated | relid=0 | w=32
  2173. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:variable age at onset, but usually in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset, but usually in childhood | rel=r_associated | relid=0 | w=32
  2174. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:variable age at onset, most often in second decade
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset, most often in second decade | rel=r_associated | relid=0 | w=32
  2175. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:variable age of onset (6 to 35 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age of onset (6 to 35 years) | rel=r_associated | relid=0 | w=32
  2176. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:variable age of onset (7-59 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age of onset (7-59 years) | rel=r_associated | relid=0 | w=32
  2177. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:variable age of onset (range 1-40 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age of onset (range 1-40 years) | rel=r_associated | relid=0 | w=32
  2178. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:variable expression
    n1=en:incidence of 1 in 250,000 births | n2=en:variable expression | rel=r_associated | relid=0 | w=32
  2179. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:variable expressivity in families
    n1=en:incidence of 1 in 250,000 births | n2=en:variable expressivity in families | rel=r_associated | relid=0 | w=32
  2180. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:variable features and severity
    n1=en:incidence of 1 in 250,000 births | n2=en:variable features and severity | rel=r_associated | relid=0 | w=32
  2181. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:variable manifestation of features
    n1=en:incidence of 1 in 250,000 births | n2=en:variable manifestation of features | rel=r_associated | relid=0 | w=32
  2182. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:variable phenotype (myotonia may or may not be present)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable phenotype (myotonia may or may not be present) | rel=r_associated | relid=0 | w=32
  2183. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:variable phenotype depending on residual enzyme activity
    n1=en:incidence of 1 in 250,000 births | n2=en:variable phenotype depending on residual enzyme activity | rel=r_associated | relid=0 | w=32
  2184. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:variable phenotype, particularly with regard to cortical malformations
    n1=en:incidence of 1 in 250,000 births | n2=en:variable phenotype, particularly with regard to cortical malformations | rel=r_associated | relid=0 | w=32
  2185. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:variable response to levodopa treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:variable response to levodopa treatment | rel=r_associated | relid=0 | w=32
  2186. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism
    n1=en:incidence of 1 in 250,000 births | n2=en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism | rel=r_associated | relid=0 | w=32
  2187. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:variable survival
    n1=en:incidence of 1 in 250,000 births | n2=en:variable survival | rel=r_associated | relid=0 | w=32
  2188. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:venous malformations previously referred to as angiomas or hemangiomas
    n1=en:incidence of 1 in 250,000 births | n2=en:venous malformations previously referred to as angiomas or hemangiomas | rel=r_associated | relid=0 | w=32
  2189. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:visual and hearing loss are slowly progressive
    n1=en:incidence of 1 in 250,000 births | n2=en:visual and hearing loss are slowly progressive | rel=r_associated | relid=0 | w=32
  2190. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:waddling gait, often presenting sign in second year
    n1=en:incidence of 1 in 250,000 births | n2=en:waddling gait, often presenting sign in second year | rel=r_associated | relid=0 | w=32
  2191. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:weakness during pregnancy in affected females
    n1=en:incidence of 1 in 250,000 births | n2=en:weakness during pregnancy in affected females | rel=r_associated | relid=0 | w=32
  2192. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:wheelchair-bound after 2 decades of disease onset
    n1=en:incidence of 1 in 250,000 births | n2=en:wheelchair-bound after 2 decades of disease onset | rel=r_associated | relid=0 | w=32
  2193. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:women are more often affected
    n1=en:incidence of 1 in 250,000 births | n2=en:women are more often affected | rel=r_associated | relid=0 | w=32
  2194. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:xy karyotype
    n1=en:incidence of 1 in 250,000 births | n2=en:xy karyotype | rel=r_associated | relid=0 | w=32
  2195. en:incidence of 1 in 250,000 births -- r_associated #0: 32 / 0.744 -> en:z allele most common, only in caucasians
    n1=en:incidence of 1 in 250,000 births | n2=en:z allele most common, only in caucasians | rel=r_associated | relid=0 | w=32
  2196. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:25% due to mutations in ube3a (601623)
    n1=en:incidence of 1 in 250,000 births | n2=en:25% due to mutations in ube3a (601623) | rel=r_associated | relid=0 | w=31
  2197. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> 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:incidence of 1 in 250,000 births | 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=31
  2198. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:5-10% of patients have a first degree relative with ibd (crohn or ulcerative colitis)
    n1=en:incidence of 1 in 250,000 births | n2=en:5-10% of patients have a first degree relative with ibd (crohn or ulcerative colitis) | rel=r_associated | relid=0 | w=31
  2199. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:7 unrelated patients have been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:7 unrelated patients have been reported | rel=r_associated | relid=0 | w=31
  2200. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient
    n1=en:incidence of 1 in 250,000 births | n2=en:a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient | rel=r_associated | relid=0 | w=31
  2201. en:incidence of 1 in 250,000 births -- 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:incidence of 1 in 250,000 births | 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
  2202. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:a subset of patients have a 'visual variant'
    n1=en:incidence of 1 in 250,000 births | n2=en:a subset of patients have a 'visual variant' | rel=r_associated | relid=0 | w=31
  2203. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:a subset of patients may have congenital abnormalities of the ocular anterior segment
    n1=en:incidence of 1 in 250,000 births | n2=en:a subset of patients may have congenital abnormalities of the ocular anterior segment | rel=r_associated | relid=0 | w=31
  2204. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:a wnt3 mutation has been identified in 1 affected family
    n1=en:incidence of 1 in 250,000 births | n2=en:a wnt3 mutation has been identified in 1 affected family | rel=r_associated | relid=0 | w=31
  2205. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:abnormal transferrin pattern tends to improve with age
    n1=en:incidence of 1 in 250,000 births | n2=en:abnormal transferrin pattern tends to improve with age | rel=r_associated | relid=0 | w=31
  2206. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:about 10% of patients have a severe early onset in the first months of life
    n1=en:incidence of 1 in 250,000 births | n2=en:about 10% of patients have a severe early onset in the first months of life | rel=r_associated | relid=0 | w=31
  2207. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:about 50% of patients have intellectual disability and/or hydrocephalus
    n1=en:incidence of 1 in 250,000 births | n2=en:about 50% of patients have intellectual disability and/or hydrocephalus | rel=r_associated | relid=0 | w=31
  2208. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:absence seizures show onset between 3.5 and 4 years
    n1=en:incidence of 1 in 250,000 births | n2=en:absence seizures show onset between 3.5 and 4 years | rel=r_associated | relid=0 | w=31
  2209. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:absence seizures usually remit by puberty
    n1=en:incidence of 1 in 250,000 births | n2=en:absence seizures usually remit by puberty | rel=r_associated | relid=0 | w=31
  2210. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:accounts for <2% of patients with alzheimer's disease
    n1=en:incidence of 1 in 250,000 births | n2=en:accounts for <2% of patients with alzheimer's disease | rel=r_associated | relid=0 | w=31
  2211. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:adult form is asymptomatic
    n1=en:incidence of 1 in 250,000 births | n2=en:adult form is asymptomatic | rel=r_associated | relid=0 | w=31
  2212. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:adult onset
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset | rel=r_associated | relid=0 | w=31
  2213. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:adult onset (45 to 76 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (45 to 76 years) | rel=r_associated | relid=0 | w=31
  2214. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:adult onset (range 14 to 70 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (range 14 to 70 years) | rel=r_associated | relid=0 | w=31
  2215. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis
    n1=en:incidence of 1 in 250,000 births | n2=en:adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis | rel=r_associated | relid=0 | w=31
  2216. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:affected individuals are highly prone to burn-related injuries
    n1=en:incidence of 1 in 250,000 births | n2=en:affected individuals are highly prone to burn-related injuries | rel=r_associated | relid=0 | w=31
  2217. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:affected individuals remain ambulatory
    n1=en:incidence of 1 in 250,000 births | n2=en:affected individuals remain ambulatory | rel=r_associated | relid=0 | w=31
  2218. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:affected males who survive are secondary to new mutations
    n1=en:incidence of 1 in 250,000 births | n2=en:affected males who survive are secondary to new mutations | rel=r_associated | relid=0 | w=31
  2219. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:age at onset ranges from neonatal to adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:age at onset ranges from neonatal to adulthood | rel=r_associated | relid=0 | w=31
  2220. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:age of onset 6-10 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset 6-10 years | rel=r_associated | relid=0 | w=31
  2221. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:age of onset varies between 18 years and 53 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset varies between 18 years and 53 years | rel=r_associated | relid=0 | w=31
  2222. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:age:time:pt:^patient:qn:calculated
    n1=en:incidence of 1 in 250,000 births | n2=en:age:time:pt:^patient:qn:calculated | rel=r_associated | relid=0 | w=31
  2223. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:all reported cases result from de novo mutation (last curated july 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:all reported cases result from de novo mutation (last curated july 2014) | rel=r_associated | relid=0 | w=31
  2224. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:all reported patients are female
    n1=en:incidence of 1 in 250,000 births | n2=en:all reported patients are female | rel=r_associated | relid=0 | w=31
  2225. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:allelic disorder is brugada syndrome (601144)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder is brugada syndrome (601144) | rel=r_associated | relid=0 | w=31
  2226. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:allelic disorder to benign recurrent intrahepatic cholestasis (bric1, 243300)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to benign recurrent intrahepatic cholestasis (bric1, 243300) | rel=r_associated | relid=0 | w=31
  2227. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:allelic disorder to charcot-marie-tooth disease 2f (cmt2f, 606595)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to charcot-marie-tooth disease 2f (cmt2f, 606595) | rel=r_associated | relid=0 | w=31
  2228. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:allelic disorder to early-onset sarcoidosis (609464)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to early-onset sarcoidosis (609464) | rel=r_associated | relid=0 | w=31
  2229. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:allelic disorder to episodic ataxia-2 (ea2, 108500) and spinocerebellar ataxia-6 (sca6, 183086)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to episodic ataxia-2 (ea2, 108500) and spinocerebellar ataxia-6 (sca6, 183086) | rel=r_associated | relid=0 | w=31
  2230. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, 259770)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, 259770) | rel=r_associated | relid=0 | w=31
  2231. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:allelic disorder to rapp-hodgkin syndrome (rhs, 129400)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to rapp-hodgkin syndrome (rhs, 129400) | rel=r_associated | relid=0 | w=31
  2232. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:allelic disorder to type iv glycogen storage disease (232500)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to type iv glycogen storage disease (232500) | rel=r_associated | relid=0 | w=31
  2233. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> 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:incidence of 1 in 250,000 births | 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=31
  2234. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> 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:incidence of 1 in 250,000 births | 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=31
  2235. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:allelic to bannayan-riley-ruvalcaba syndrome (153480), which has an earlier age at onset
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to bannayan-riley-ruvalcaba syndrome (153480), which has an earlier age at onset | rel=r_associated | relid=0 | w=31
  2236. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:allelic to dentin dysplasia, type 2 (125420)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to dentin dysplasia, type 2 (125420) | rel=r_associated | relid=0 | w=31
  2237. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:allelic to eec3 (604292), shfm4 (605289), adult syndrome (103285), limb-mammary syndrome (603543), and rapp-hodgkin syndrome (129400)
    n1=en:incidence of 1 in 250,000 births | 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=31
  2238. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:allelic to fechtner syndrome (153640), may-hegglin anomaly (155100), sebastian syndrome (605249), and epstein syndrome (153650)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to fechtner syndrome (153640), may-hegglin anomaly (155100), sebastian syndrome (605249), and epstein syndrome (153650) | rel=r_associated | relid=0 | w=31
  2239. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:allelic to multiple pterygium syndrome, lethal type (253290)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to multiple pterygium syndrome, lethal type (253290) | rel=r_associated | relid=0 | w=31
  2240. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:allelic to naxos disease (601214)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to naxos disease (601214) | rel=r_associated | relid=0 | w=31
  2241. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and stapes ankylosis syndrome without symphalangism (184460)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and stapes ankylosis syndrome without symphalangism (184460) | rel=r_associated | relid=0 | w=31
  2242. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750)
    n1=en:incidence of 1 in 250,000 births | 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=31
  2243. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:approximately 60% of brrs patients have pten mutations
    n1=en:incidence of 1 in 250,000 births | n2=en:approximately 60% of brrs patients have pten mutations | rel=r_associated | relid=0 | w=31
  2244. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:associated with advanced paternal age
    n1=en:incidence of 1 in 250,000 births | n2=en:associated with advanced paternal age | rel=r_associated | relid=0 | w=31
  2245. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:associated with fragile x syndrome (300624)
    n1=en:incidence of 1 in 250,000 births | n2=en:associated with fragile x syndrome (300624) | rel=r_associated | relid=0 | w=31
  2246. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:ataxia becomes evident at the end of the first year of life
    n1=en:incidence of 1 in 250,000 births | n2=en:ataxia becomes evident at the end of the first year of life | rel=r_associated | relid=0 | w=31
  2247. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:attacks precipitated by drugs, alcohol, and endocrine factors (hcp)
    n1=en:incidence of 1 in 250,000 births | n2=en:attacks precipitated by drugs, alcohol, and endocrine factors (hcp) | rel=r_associated | relid=0 | w=31
  2248. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:attacks triggered by catabolic stress, such as fever or illness
    n1=en:incidence of 1 in 250,000 births | n2=en:attacks triggered by catabolic stress, such as fever or illness | rel=r_associated | relid=0 | w=31
  2249. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:atypical hemolytic-uremic syndrome shows onset in first 12 months
    n1=en:incidence of 1 in 250,000 births | n2=en:atypical hemolytic-uremic syndrome shows onset in first 12 months | rel=r_associated | relid=0 | w=31
  2250. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:autosomal dominant (177000.0003)
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal dominant (177000.0003) | rel=r_associated | relid=0 | w=31
  2251. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:autosomal dominant dopa-responsive dystonia (dyt5, 128230) is an allelic disorder with overlapping features
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal dominant dopa-responsive dystonia (dyt5, 128230) is an allelic disorder with overlapping features | rel=r_associated | relid=0 | w=31
  2252. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:autosomal recessive and dominant pedigrees described
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal recessive and dominant pedigrees described | rel=r_associated | relid=0 | w=31
  2253. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:autosomal recessive cytochrome b-negative cgd (233690)
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal recessive cytochrome b-negative cgd (233690) | rel=r_associated | relid=0 | w=31
  2254. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:autosomal recessive disorder tends to be more severe
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal recessive disorder tends to be more severe | rel=r_associated | relid=0 | w=31
  2255. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:autosomal recessive form (277720) has also been described
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal recessive form (277720) has also been described | rel=r_associated | relid=0 | w=31
  2256. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:autosomal recessive inheritance (245600) has also been suggested
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal recessive inheritance (245600) has also been suggested | rel=r_associated | relid=0 | w=31
  2257. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:autosomal recessive inheritance has been reported in 1 family (as of april 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal recessive inheritance has been reported in 1 family (as of april 2011) | rel=r_associated | relid=0 | w=31
  2258. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:based on 1 reported family (last curated december 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on 1 reported family (last curated december 2013) | rel=r_associated | relid=0 | w=31
  2259. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:based on report of 1 family (last curated october 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on report of 1 family (last curated october 2014) | rel=r_associated | relid=0 | w=31
  2260. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:based on report of 2 sibs in 2008
    n1=en:incidence of 1 in 250,000 births | n2=en:based on report of 2 sibs in 2008 | rel=r_associated | relid=0 | w=31
  2261. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:based on report of one consanguineous kuwaiti family (last curated december 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on report of one consanguineous kuwaiti family (last curated december 2014) | rel=r_associated | relid=0 | w=31
  2262. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:begins in feet and legs (peroneal distribution)
    n1=en:incidence of 1 in 250,000 births | n2=en:begins in feet and legs (peroneal distribution) | rel=r_associated | relid=0 | w=31
  2263. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:bimodal age of onset
    n1=en:incidence of 1 in 250,000 births | n2=en:bimodal age of onset | rel=r_associated | relid=0 | w=31
  2264. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:breech position
    n1=en:incidence of 1 in 250,000 births | n2=en:breech position | rel=r_associated | relid=0 | w=31
  2265. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:carrier females may have mild features
    n1=en:incidence of 1 in 250,000 births | n2=en:carrier females may have mild features | rel=r_associated | relid=0 | w=31
  2266. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:carrier mothers have urine biochemistry profiles identical to those of their sons
    n1=en:incidence of 1 in 250,000 births | n2=en:carrier mothers have urine biochemistry profiles identical to those of their sons | rel=r_associated | relid=0 | w=31
  2267. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:caused by a defect in bile acid transport
    n1=en:incidence of 1 in 250,000 births | n2=en:caused by a defect in bile acid transport | rel=r_associated | relid=0 | w=31
  2268. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:caused by heterozygous germline mutation and second-hit somatic mutation
    n1=en:incidence of 1 in 250,000 births | n2=en:caused by heterozygous germline mutation and second-hit somatic mutation | rel=r_associated | relid=0 | w=31
  2269. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:caused by paternally-inherited inactivating gnas1 mutations
    n1=en:incidence of 1 in 250,000 births | n2=en:caused by paternally-inherited inactivating gnas1 mutations | rel=r_associated | relid=0 | w=31
  2270. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:cheerful disposition
    n1=en:incidence of 1 in 250,000 births | n2=en:cheerful disposition | rel=r_associated | relid=0 | w=31
  2271. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:child is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects
    n1=en:incidence of 1 in 250,000 births | n2=en:child is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects | rel=r_associated | relid=0 | w=31
  2272. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:childhood absence epilepsy (eca1 600131, eca2 607681, eca3 607682)
    n1=en:incidence of 1 in 250,000 births | n2=en:childhood absence epilepsy (eca1 600131, eca2 607681, eca3 607682) | rel=r_associated | relid=0 | w=31
  2273. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:childhood onset (average 4 to 6 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:childhood onset (average 4 to 6 years) | rel=r_associated | relid=0 | w=31
  2274. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:childhood onset rarely occurs
    n1=en:incidence of 1 in 250,000 births | n2=en:childhood onset rarely occurs | rel=r_associated | relid=0 | w=31
  2275. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies
    n1=en:incidence of 1 in 250,000 births | n2=en:chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies | rel=r_associated | relid=0 | w=31
  2276. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:classical form (type i), less severe with survival into adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:classical form (type i), less severe with survival into adulthood | rel=r_associated | relid=0 | w=31
  2277. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:clinical and pathologic features of both demyelinating and axonal cmt
    n1=en:incidence of 1 in 250,000 births | n2=en:clinical and pathologic features of both demyelinating and axonal cmt | rel=r_associated | relid=0 | w=31
  2278. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:clinical onset within first 2 years of life
    n1=en:incidence of 1 in 250,000 births | n2=en:clinical onset within first 2 years of life | rel=r_associated | relid=0 | w=31
  2279. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:clove - congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
    n1=en:incidence of 1 in 250,000 births | n2=en:clove - congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | rel=r_associated | relid=0 | w=31
  2280. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:codas is an acronym for cerebral ocular dental auricular skeletal syndrome
    n1=en:incidence of 1 in 250,000 births | n2=en:codas is an acronym for cerebral ocular dental auricular skeletal syndrome | rel=r_associated | relid=0 | w=31
  2281. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:color vision defects may not be part of the phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:color vision defects may not be part of the phenotype | rel=r_associated | relid=0 | w=31
  2282. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:complementation groups - complementation group a (classic mliii, 252600)
    n1=en:incidence of 1 in 250,000 births | n2=en:complementation groups - complementation group a (classic mliii, 252600) | rel=r_associated | relid=0 | w=31
  2283. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:condition is experienced by patients as harmless and is often discovered incidentally
    n1=en:incidence of 1 in 250,000 births | n2=en:condition is experienced by patients as harmless and is often discovered incidentally | rel=r_associated | relid=0 | w=31
  2284. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:congenital - over 2,000 repeats
    n1=en:incidence of 1 in 250,000 births | n2=en:congenital - over 2,000 repeats | rel=r_associated | relid=0 | w=31
  2285. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:congenital onset or onset before 2 years (prelingual)
    n1=en:incidence of 1 in 250,000 births | n2=en:congenital onset or onset before 2 years (prelingual) | rel=r_associated | relid=0 | w=31
  2286. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:considered to be part of the spectrum of joubert syndrome (213300) and meckel syndrome (249000)
    n1=en:incidence of 1 in 250,000 births | n2=en:considered to be part of the spectrum of joubert syndrome (213300) and meckel syndrome (249000) | rel=r_associated | relid=0 | w=31
  2287. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism
    n1=en:incidence of 1 in 250,000 births | n2=en:contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism | rel=r_associated | relid=0 | w=31
  2288. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:corrected by bone marrow transplantation
    n1=en:incidence of 1 in 250,000 births | n2=en:corrected by bone marrow transplantation | rel=r_associated | relid=0 | w=31
  2289. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:crisis precipitated by high altitude exposure
    n1=en:incidence of 1 in 250,000 births | n2=en:crisis precipitated by high altitude exposure | rel=r_associated | relid=0 | w=31
  2290. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:de novo mutation resulting in haploinsufficiency of eftud2 (603892)
    n1=en:incidence of 1 in 250,000 births | n2=en:de novo mutation resulting in haploinsufficiency of eftud2 (603892) | rel=r_associated | relid=0 | w=31
  2291. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:death in early infancy (in some patients)
    n1=en:incidence of 1 in 250,000 births | n2=en:death in early infancy (in some patients) | rel=r_associated | relid=0 | w=31
  2292. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:death in first-second decade of life secondary to cardio-respiratory compromise
    n1=en:incidence of 1 in 250,000 births | n2=en:death in first-second decade of life secondary to cardio-respiratory compromise | rel=r_associated | relid=0 | w=31
  2293. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:death in infancy (1 patient)
    n1=en:incidence of 1 in 250,000 births | n2=en:death in infancy (1 patient) | rel=r_associated | relid=0 | w=31
  2294. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:death in infancy, usually from sepsis, dehydration, or acidosis
    n1=en:incidence of 1 in 250,000 births | n2=en:death in infancy, usually from sepsis, dehydration, or acidosis | rel=r_associated | relid=0 | w=31
  2295. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:death in the mid-twenties
    n1=en:incidence of 1 in 250,000 births | n2=en:death in the mid-twenties | rel=r_associated | relid=0 | w=31
  2296. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:death secondary to respiratory infection or failure before age 2 years
    n1=en:incidence of 1 in 250,000 births | n2=en:death secondary to respiratory infection or failure before age 2 years | rel=r_associated | relid=0 | w=31
  2297. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:death usually due to renal failure by average age 3
    n1=en:incidence of 1 in 250,000 births | n2=en:death usually due to renal failure by average age 3 | rel=r_associated | relid=0 | w=31
  2298. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:death usually in infancy or early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:death usually in infancy or early childhood | rel=r_associated | relid=0 | w=31
  2299. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:death usually within first year of life
    n1=en:incidence of 1 in 250,000 births | n2=en:death usually within first year of life | rel=r_associated | relid=0 | w=31
  2300. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:death within first decade
    n1=en:incidence of 1 in 250,000 births | n2=en:death within first decade | rel=r_associated | relid=0 | w=31
  2301. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history)
    n1=en:incidence of 1 in 250,000 births | n2=en:definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history) | rel=r_associated | relid=0 | w=31
  2302. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:deletion sizes range from 287kb to 4.4mb
    n1=en:incidence of 1 in 250,000 births | n2=en:deletion sizes range from 287kb to 4.4mb | rel=r_associated | relid=0 | w=31
  2303. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:described in single afrikaner family
    n1=en:incidence of 1 in 250,000 births | n2=en:described in single afrikaner family | rel=r_associated | relid=0 | w=31
  2304. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:described predominantly in families from the philippines
    n1=en:incidence of 1 in 250,000 births | n2=en:described predominantly in families from the philippines | rel=r_associated | relid=0 | w=31
  2305. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:development of afebrile seizures later in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:development of afebrile seizures later in childhood | rel=r_associated | relid=0 | w=31
  2306. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:diagnosis in early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:diagnosis in early childhood | rel=r_associated | relid=0 | w=31
  2307. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:diagnosis in the second decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:diagnosis in the second decade of life | rel=r_associated | relid=0 | w=31
  2308. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:disease is life-threatening if untreated
    n1=en:incidence of 1 in 250,000 births | n2=en:disease is life-threatening if untreated | rel=r_associated | relid=0 | w=31
  2309. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:disease usually progresses in a cephalocaudal direction
    n1=en:incidence of 1 in 250,000 births | n2=en:disease usually progresses in a cephalocaudal direction | rel=r_associated | relid=0 | w=31
  2310. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:distinct disorder from marinesco-sjogren syndrome (mss, 248800)
    n1=en:incidence of 1 in 250,000 births | n2=en:distinct disorder from marinesco-sjogren syndrome (mss, 248800) | rel=r_associated | relid=0 | w=31
  2311. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:dopa-responsive rigidity
    n1=en:incidence of 1 in 250,000 births | n2=en:dopa-responsive rigidity | rel=r_associated | relid=0 | w=31
  2312. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:due to lack of epidermal ridging, patients lack fingerprints
    n1=en:incidence of 1 in 250,000 births | n2=en:due to lack of epidermal ridging, patients lack fingerprints | rel=r_associated | relid=0 | w=31
  2313. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:dyskinesia may be precipitated by alcohol, stress, or fatigue
    n1=en:incidence of 1 in 250,000 births | n2=en:dyskinesia may be precipitated by alcohol, stress, or fatigue | rel=r_associated | relid=0 | w=31
  2314. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:dyskinesias occur in a subset of patients later than seizures (6 to 12 months)
    n1=en:incidence of 1 in 250,000 births | n2=en:dyskinesias occur in a subset of patients later than seizures (6 to 12 months) | rel=r_associated | relid=0 | w=31
  2315. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:earlier onset is associated with a more severe disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:earlier onset is associated with a more severe disorder | rel=r_associated | relid=0 | w=31
  2316. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:early death in males
    n1=en:incidence of 1 in 250,000 births | n2=en:early death in males | rel=r_associated | relid=0 | w=31
  2317. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:early death, usually before age 2 years
    n1=en:incidence of 1 in 250,000 births | n2=en:early death, usually before age 2 years | rel=r_associated | relid=0 | w=31
  2318. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:early diagnosis and treatment prevent many complications
    n1=en:incidence of 1 in 250,000 births | n2=en:early diagnosis and treatment prevent many complications | rel=r_associated | relid=0 | w=31
  2319. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:early exhaustion on exertion
    n1=en:incidence of 1 in 250,000 births | n2=en:early exhaustion on exertion | rel=r_associated | relid=0 | w=31
  2320. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:estimated carrier frequency in charlevoix-saguenay region is 1/22
    n1=en:incidence of 1 in 250,000 births | n2=en:estimated carrier frequency in charlevoix-saguenay region is 1/22 | rel=r_associated | relid=0 | w=31
  2321. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k.
    n1=en:incidence of 1 in 250,000 births | n2=en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k. | rel=r_associated | relid=0 | w=31
  2322. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:evidence of incomplete penetrance in one family
    n1=en:incidence of 1 in 250,000 births | n2=en:evidence of incomplete penetrance in one family | rel=r_associated | relid=0 | w=31
  2323. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:exacerbation during febrile episodes
    n1=en:incidence of 1 in 250,000 births | n2=en:exacerbation during febrile episodes | rel=r_associated | relid=0 | w=31
  2324. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:facial appearance becomes more apparent with age
    n1=en:incidence of 1 in 250,000 births | n2=en:facial appearance becomes more apparent with age | rel=r_associated | relid=0 | w=31
  2325. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:familial (10%) and isolated cases
    n1=en:incidence of 1 in 250,000 births | n2=en:familial (10%) and isolated cases | rel=r_associated | relid=0 | w=31
  2326. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:familial cases are rare and show incomplete penetrance
    n1=en:incidence of 1 in 250,000 births | n2=en:familial cases are rare and show incomplete penetrance | rel=r_associated | relid=0 | w=31
  2327. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:fatal in first few months of life in most cases
    n1=en:incidence of 1 in 250,000 births | n2=en:fatal in first few months of life in most cases | rel=r_associated | relid=0 | w=31
  2328. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:favorable response to corticosteroid treatment (1 family)
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to corticosteroid treatment (1 family) | rel=r_associated | relid=0 | w=31
  2329. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:favorable response to oral bile acid therapy
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to oral bile acid therapy | rel=r_associated | relid=0 | w=31
  2330. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:febrile attacks disappear in adulthood in some patients
    n1=en:incidence of 1 in 250,000 births | n2=en:febrile attacks disappear in adulthood in some patients | rel=r_associated | relid=0 | w=31
  2331. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:febrile illness may precipitate attacks of weakness
    n1=en:incidence of 1 in 250,000 births | n2=en:febrile illness may precipitate attacks of weakness | rel=r_associated | relid=0 | w=31
  2332. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:female carriers may have cardiac defects
    n1=en:incidence of 1 in 250,000 births | n2=en:female carriers may have cardiac defects | rel=r_associated | relid=0 | w=31
  2333. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:female carriers may have short stature and premature ovarian failure
    n1=en:incidence of 1 in 250,000 births | n2=en:female carriers may have short stature and premature ovarian failure | rel=r_associated | relid=0 | w=31
  2334. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:female mutation carriers have earlier age at onset compared to male mutation carriers
    n1=en:incidence of 1 in 250,000 births | n2=en:female mutation carriers have earlier age at onset compared to male mutation carriers | rel=r_associated | relid=0 | w=31
  2335. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:female preponderance
    n1=en:incidence of 1 in 250,000 births | n2=en:female preponderance | rel=r_associated | relid=0 | w=31
  2336. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:fifty percent of cases are sporadic
    n1=en:incidence of 1 in 250,000 births | n2=en:fifty percent of cases are sporadic | rel=r_associated | relid=0 | w=31
  2337. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:figure associated with report or note:-:point in time:^patient:-
    n1=en:incidence of 1 in 250,000 births | n2=en:figure associated with report or note:-:point in time:^patient:- | rel=r_associated | relid=0 | w=31
  2338. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:fishy body odor
    n1=en:incidence of 1 in 250,000 births | n2=en:fishy body odor | rel=r_associated | relid=0 | w=31
  2339. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:five unrelated patients have been reported (nov. 2009)
    n1=en:incidence of 1 in 250,000 births | n2=en:five unrelated patients have been reported (nov. 2009) | rel=r_associated | relid=0 | w=31
  2340. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:for a similar phenotype with genital anomalies and disordered steroidogenesis see por deficiency (201750)
    n1=en:incidence of 1 in 250,000 births | n2=en:for a similar phenotype with genital anomalies and disordered steroidogenesis see por deficiency (201750) | rel=r_associated | relid=0 | w=31
  2341. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> 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
  2342. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:four unrelated patients have been reported (last curated june 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:four unrelated patients have been reported (last curated june 2014) | rel=r_associated | relid=0 | w=31
  2343. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:four unrelated patients with zswim6 mutations have been described (last curated september 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:four unrelated patients with zswim6 mutations have been described (last curated september 2014) | rel=r_associated | relid=0 | w=31
  2344. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:fractures can occur in utero, during labor and delivery, or in newborn period
    n1=en:incidence of 1 in 250,000 births | n2=en:fractures can occur in utero, during labor and delivery, or in newborn period | rel=r_associated | relid=0 | w=31
  2345. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:frequency increases with advancing age
    n1=en:incidence of 1 in 250,000 births | n2=en:frequency increases with advancing age | rel=r_associated | relid=0 | w=31
  2346. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:generally mild phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:generally mild phenotype | rel=r_associated | relid=0 | w=31
  2347. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes) | rel=r_associated | relid=0 | w=31
  2348. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see 192600)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see 192600) | rel=r_associated | relid=0 | w=31
  2349. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see 601680)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see 601680) | rel=r_associated | relid=0 | w=31
  2350. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see cmt1a 118220, cmt1c 601098, cmt1d 607678, cmt1f 607734)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see cmt1a 118220, cmt1c 601098, cmt1d 607678, cmt1f 607734) | rel=r_associated | relid=0 | w=31
  2351. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see cmt2a2 609260, cmt2b 600882, cmt2c 606071, cmt2d 601472, cmt2e 607684, cmt2f 606595, cmt2i 607677)
    n1=en:incidence of 1 in 250,000 births | 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=31
  2352. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see cmtdia 606483)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see cmtdia 606483) | rel=r_associated | relid=0 | w=31
  2353. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see enfl1, 600513)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see enfl1, 600513) | rel=r_associated | relid=0 | w=31
  2354. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see lqt1 192500)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see lqt1 192500) | rel=r_associated | relid=0 | w=31
  2355. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see npc1, 257220)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see npc1, 257220) | rel=r_associated | relid=0 | w=31
  2356. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see, e.g., 608631, 300494, 300497)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see, e.g., 608631, 300494, 300497) | rel=r_associated | relid=0 | w=31
  2357. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see, e.g., atfb3, 607554)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see, e.g., atfb3, 607554) | rel=r_associated | relid=0 | w=31
  2358. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity, see edm1 (132400), edm2 (600204), edm3 (600969), and edm5 (607078)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity, see edm1 (132400), edm2 (600204), edm3 (600969), and edm5 (607078) | rel=r_associated | relid=0 | w=31
  2359. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity, see fhm1, (141500) and mgr1, (157300)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity, see fhm1, (141500) and mgr1, (157300) | rel=r_associated | relid=0 | w=31
  2360. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:glucocorticoid deficiency occurs in mid-childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:glucocorticoid deficiency occurs in mid-childhood | rel=r_associated | relid=0 | w=31
  2361. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:good response to fibrinolytic inhibitors
    n1=en:incidence of 1 in 250,000 births | n2=en:good response to fibrinolytic inhibitors | rel=r_associated | relid=0 | w=31
  2362. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:group a patients die in the first years of life
    n1=en:incidence of 1 in 250,000 births | n2=en:group a patients die in the first years of life | rel=r_associated | relid=0 | w=31
  2363. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:has been described in patients of caucasus jewish origin
    n1=en:incidence of 1 in 250,000 births | n2=en:has been described in patients of caucasus jewish origin | rel=r_associated | relid=0 | w=31
  2364. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years
    n1=en:incidence of 1 in 250,000 births | 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=31
  2365. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:hepatomegaly improves with age and disappears around puberty
    n1=en:incidence of 1 in 250,000 births | n2=en:hepatomegaly improves with age and disappears around puberty | rel=r_associated | relid=0 | w=31
  2366. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:heterozygotes have plasma levels of triglycerides and/or hdl cholesterol that are intermediate between homozygotes and unaffected individuals
    n1=en:incidence of 1 in 250,000 births | 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=31
  2367. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:heterozygotes may exhibit syndromic manifestations
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygotes may exhibit syndromic manifestations | rel=r_associated | relid=0 | w=31
  2368. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea | rel=r_associated | relid=0 | w=31
  2369. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:heterozygous female carriers may manifest symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygous female carriers may manifest symptoms | rel=r_associated | relid=0 | w=31
  2370. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334)
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334) | rel=r_associated | relid=0 | w=31
  2371. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:high frequency among french-canadians
    n1=en:incidence of 1 in 250,000 births | n2=en:high frequency among french-canadians | rel=r_associated | relid=0 | w=31
  2372. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:high mortality in infancy and early childhood (in some patients)
    n1=en:incidence of 1 in 250,000 births | n2=en:high mortality in infancy and early childhood (in some patients) | rel=r_associated | relid=0 | w=31
  2373. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:high risk of recurrence after surgery
    n1=en:incidence of 1 in 250,000 births | n2=en:high risk of recurrence after surgery | rel=r_associated | relid=0 | w=31
  2374. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:highest incidence in men of european descent
    n1=en:incidence of 1 in 250,000 births | n2=en:highest incidence in men of european descent | rel=r_associated | relid=0 | w=31
  2375. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:highly variable clinical phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:highly variable clinical phenotype | rel=r_associated | relid=0 | w=31
  2376. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:highly variable phenotype with respect to facial dysmorphism and neurologic features
    n1=en:incidence of 1 in 250,000 births | n2=en:highly variable phenotype with respect to facial dysmorphism and neurologic features | rel=r_associated | relid=0 | w=31
  2377. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:highly variable phenotype, ranging from asymptomatic to death by age 3 years
    n1=en:incidence of 1 in 250,000 births | n2=en:highly variable phenotype, ranging from asymptomatic to death by age 3 years | rel=r_associated | relid=0 | w=31
  2378. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:highly variable phenotype, ranging from asymptomatic to severe
    n1=en:incidence of 1 in 250,000 births | n2=en:highly variable phenotype, ranging from asymptomatic to severe | rel=r_associated | relid=0 | w=31
  2379. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth
    n1=en:incidence of 1 in 250,000 births | n2=en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth | rel=r_associated | relid=0 | w=31
  2380. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:hyperpigmented patches increased in size and number with age
    n1=en:incidence of 1 in 250,000 births | n2=en:hyperpigmented patches increased in size and number with age | rel=r_associated | relid=0 | w=31
  2381. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:hyperthermia in early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:hyperthermia in early childhood | rel=r_associated | relid=0 | w=31
  2382. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum
    n1=en:incidence of 1 in 250,000 births | n2=en:hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum | rel=r_associated | relid=0 | w=31
  2383. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:incidence 8/1,000 newborns
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence 8/1,000 newborns | rel=r_associated | relid=0 | w=31
  2384. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:incidence of 1 in 100,000 births
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 100,000 births | rel=r_associated | relid=0 | w=31
  2385. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:incidence of 1 in 500,000 live births
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 500,000 live births | rel=r_associated | relid=0 | w=31
  2386. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:incidence of 1/50,000 births
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1/50,000 births | rel=r_associated | relid=0 | w=31
  2387. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:incidence of 1% in yarmouth county, nova scotia
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1% in yarmouth county, nova scotia | rel=r_associated | relid=0 | w=31
  2388. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:incidence of 12.2 per 100,000 in finland
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 12.2 per 100,000 in finland | rel=r_associated | relid=0 | w=31
  2389. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:incomplete penetrance in females
    n1=en:incidence of 1 in 250,000 births | n2=en:incomplete penetrance in females | rel=r_associated | relid=0 | w=31
  2390. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:increased frequency in individuals of asian descent
    n1=en:incidence of 1 in 250,000 births | n2=en:increased frequency in individuals of asian descent | rel=r_associated | relid=0 | w=31
  2391. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:increased frequency in the faroe islands (carrier 1 in 25)
    n1=en:incidence of 1 in 250,000 births | n2=en:increased frequency in the faroe islands (carrier 1 in 25) | rel=r_associated | relid=0 | w=31
  2392. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:increased frequency in the state of bahia, brazil
    n1=en:incidence of 1 in 250,000 births | n2=en:increased frequency in the state of bahia, brazil | rel=r_associated | relid=0 | w=31
  2393. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:increased prevalence in the french-canadian population
    n1=en:incidence of 1 in 250,000 births | n2=en:increased prevalence in the french-canadian population | rel=r_associated | relid=0 | w=31
  2394. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:increased sensitivity to heat
    n1=en:incidence of 1 in 250,000 births | n2=en:increased sensitivity to heat | rel=r_associated | relid=0 | w=31
  2395. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:increased spontaneous abortions in carrier mothers
    n1=en:incidence of 1 in 250,000 births | n2=en:increased spontaneous abortions in carrier mothers | rel=r_associated | relid=0 | w=31
  2396. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:independent ambulation is maintained
    n1=en:incidence of 1 in 250,000 births | n2=en:independent ambulation is maintained | rel=r_associated | relid=0 | w=31
  2397. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:intrafamilial variability
    n1=en:incidence of 1 in 250,000 births | n2=en:intrafamilial variability | rel=r_associated | relid=0 | w=31
  2398. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:known as the 'french variety' of usher syndrome since the majority of families are from poitou-charentes, france
    n1=en:incidence of 1 in 250,000 births | 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=31
  2399. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:late onset combined immunodeficiency with allelic variant 102700.0020
    n1=en:incidence of 1 in 250,000 births | n2=en:late onset combined immunodeficiency with allelic variant 102700.0020 | rel=r_associated | relid=0 | w=31
  2400. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:late-adult onset has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:late-adult onset has been reported | rel=r_associated | relid=0 | w=31
  2401. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:later childhood onset has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:later childhood onset has been reported | rel=r_associated | relid=0 | w=31
  2402. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:later onset (late childhood to young adult) has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:later onset (late childhood to young adult) has been reported | rel=r_associated | relid=0 | w=31
  2403. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:later onset of ophthalmoparesis
    n1=en:incidence of 1 in 250,000 births | n2=en:later onset of ophthalmoparesis | rel=r_associated | relid=0 | w=31
  2404. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:leopard is an acronym: lentigines, ekg abnormalities, ocular hypertelorism, obstructive cardiomyopathy, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and deafness
    n1=en:incidence of 1 in 250,000 births | 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=31
  2405. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:lesions become more prominent with sun exposure
    n1=en:incidence of 1 in 250,000 births | n2=en:lesions become more prominent with sun exposure | rel=r_associated | relid=0 | w=31
  2406. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:lesions increase in size and number with age
    n1=en:incidence of 1 in 250,000 births | n2=en:lesions increase in size and number with age | rel=r_associated | relid=0 | w=31
  2407. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:less severe phenotype in females
    n1=en:incidence of 1 in 250,000 births | n2=en:less severe phenotype in females | rel=r_associated | relid=0 | w=31
  2408. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:likely allelic to sc phocomelia syndrome (269000)
    n1=en:incidence of 1 in 250,000 births | n2=en:likely allelic to sc phocomelia syndrome (269000) | rel=r_associated | relid=0 | w=31
  2409. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:limited clinical information provided for patients with bbs12 mutations (last curated october 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:limited clinical information provided for patients with bbs12 mutations (last curated october 2014) | rel=r_associated | relid=0 | w=31
  2410. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:liver disease may be the most predominant finding
    n1=en:incidence of 1 in 250,000 births | n2=en:liver disease may be the most predominant finding | rel=r_associated | relid=0 | w=31
  2411. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:liver enzymes decrease with age
    n1=en:incidence of 1 in 250,000 births | n2=en:liver enzymes decrease with age | rel=r_associated | relid=0 | w=31
  2412. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:longer disease duration than creutzfeldt-jakob disease
    n1=en:incidence of 1 in 250,000 births | n2=en:longer disease duration than creutzfeldt-jakob disease | rel=r_associated | relid=0 | w=31
  2413. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:lower limb weakness is presenting feature
    n1=en:incidence of 1 in 250,000 births | n2=en:lower limb weakness is presenting feature | rel=r_associated | relid=0 | w=31
  2414. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:majority of eec cases appear to be secondary to tp63 (603273) mutations
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of eec cases appear to be secondary to tp63 (603273) mutations | rel=r_associated | relid=0 | w=31
  2415. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:majority of patients are ambulatory
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of patients are ambulatory | rel=r_associated | relid=0 | w=31
  2416. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:majority of wilms tumors are sporadic
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of wilms tumors are sporadic | rel=r_associated | relid=0 | w=31
  2417. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:males died in neonatal period
    n1=en:incidence of 1 in 250,000 births | n2=en:males died in neonatal period | rel=r_associated | relid=0 | w=31
  2418. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:manifestations continue to appear until 5th decade
    n1=en:incidence of 1 in 250,000 births | n2=en:manifestations continue to appear until 5th decade | rel=r_associated | relid=0 | w=31
  2419. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:many cases due to de novo mutation
    n1=en:incidence of 1 in 250,000 births | n2=en:many cases due to de novo mutation | rel=r_associated | relid=0 | w=31
  2420. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1 (607001)
    n1=en:incidence of 1 in 250,000 births | n2=en:many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1 (607001) | rel=r_associated | relid=0 | w=31
  2421. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:many patients die by 1-3 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:many patients die by 1-3 years of age | rel=r_associated | relid=0 | w=31
  2422. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:many patients recover normally
    n1=en:incidence of 1 in 250,000 births | n2=en:many patients recover normally | rel=r_associated | relid=0 | w=31
  2423. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:marked intrafamilial and interfamilial variability
    n1=en:incidence of 1 in 250,000 births | n2=en:marked intrafamilial and interfamilial variability | rel=r_associated | relid=0 | w=31
  2424. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:may be benign condition
    n1=en:incidence of 1 in 250,000 births | n2=en:may be benign condition | rel=r_associated | relid=0 | w=31
  2425. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:may regress in adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:may regress in adulthood | rel=r_associated | relid=0 | w=31
  2426. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:mean age at diagnosis is 38 years(range 11-63 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at diagnosis is 38 years(range 11-63 years) | rel=r_associated | relid=0 | w=31
  2427. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:mean age at onset of dementia is 57 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset of dementia is 57 years | rel=r_associated | relid=0 | w=31
  2428. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:mean age at onset of migraines is 42 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset of migraines is 42 years | rel=r_associated | relid=0 | w=31
  2429. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:mean age of diagnosis is 40 years (range 11 to 79 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age of diagnosis is 40 years (range 11 to 79 years) | rel=r_associated | relid=0 | w=31
  2430. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:mean age of onset 30 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age of onset 30 years | rel=r_associated | relid=0 | w=31
  2431. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:median survival 5.7 years
    n1=en:incidence of 1 in 250,000 births | n2=en:median survival 5.7 years | rel=r_associated | relid=0 | w=31
  2432. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:medullary thyroid cancer is aggressive and can occur in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:medullary thyroid cancer is aggressive and can occur in childhood | rel=r_associated | relid=0 | w=31
  2433. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:meiotic origin >95% maternal, mostly meiosis i
    n1=en:incidence of 1 in 250,000 births | n2=en:meiotic origin >95% maternal, mostly meiosis i | rel=r_associated | relid=0 | w=31
  2434. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:minimum region of duplication is a 9.1-kb region located 40kb 5-prime of the ihh gene
    n1=en:incidence of 1 in 250,000 births | 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=31
  2435. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:more commonly observed in women
    n1=en:incidence of 1 in 250,000 births | n2=en:more commonly observed in women | rel=r_associated | relid=0 | w=31
  2436. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:mortality approximately 20% in first 2 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mortality approximately 20% in first 2 years | rel=r_associated | relid=0 | w=31
  2437. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:most become wheelchair-bound late in life
    n1=en:incidence of 1 in 250,000 births | n2=en:most become wheelchair-bound late in life | rel=r_associated | relid=0 | w=31
  2438. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:most common mutation is leu276ile (606596.0004)
    n1=en:incidence of 1 in 250,000 births | n2=en:most common mutation is leu276ile (606596.0004) | rel=r_associated | relid=0 | w=31
  2439. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:most frequently affected joints - hands (98%) and feet (88%)
    n1=en:incidence of 1 in 250,000 births | n2=en:most frequently affected joints - hands (98%) and feet (88%) | rel=r_associated | relid=0 | w=31
  2440. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:most individuals are wheelchair-bound or bedridden by adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:most individuals are wheelchair-bound or bedridden by adolescence | rel=r_associated | relid=0 | w=31
  2441. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:most patients are female
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients are female | rel=r_associated | relid=0 | w=31
  2442. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:most patients become wheelchair-bound in adolescence or as young adults
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients become wheelchair-bound in adolescence or as young adults | rel=r_associated | relid=0 | w=31
  2443. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:most patients die in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients die in infancy | rel=r_associated | relid=0 | w=31
  2444. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:most reported cases come from the island of mauritius or nearby islands
    n1=en:incidence of 1 in 250,000 births | n2=en:most reported cases come from the island of mauritius or nearby islands | rel=r_associated | relid=0 | w=31
  2445. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:most severe type of von willebrand disease
    n1=en:incidence of 1 in 250,000 births | n2=en:most severe type of von willebrand disease | rel=r_associated | relid=0 | w=31
  2446. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:motor neuropathy more prominent than sensory neuropathy
    n1=en:incidence of 1 in 250,000 births | n2=en:motor neuropathy more prominent than sensory neuropathy | rel=r_associated | relid=0 | w=31
  2447. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:motor skills less affected than cognitive skills
    n1=en:incidence of 1 in 250,000 births | n2=en:motor skills less affected than cognitive skills | rel=r_associated | relid=0 | w=31
  2448. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:motor symptoms show mild clinical improvement with levodopa treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:motor symptoms show mild clinical improvement with levodopa treatment | rel=r_associated | relid=0 | w=31
  2449. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:multiple lesions in familial cases
    n1=en:incidence of 1 in 250,000 births | n2=en:multiple lesions in familial cases | rel=r_associated | relid=0 | w=31
  2450. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:multiple mitochondrial dna deletions are found in autosomal dominant pedigrees
    n1=en:incidence of 1 in 250,000 births | n2=en:multiple mitochondrial dna deletions are found in autosomal dominant pedigrees | rel=r_associated | relid=0 | w=31
  2451. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:muscle symptoms precede cardiac symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:muscle symptoms precede cardiac symptoms | rel=r_associated | relid=0 | w=31
  2452. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011) | rel=r_associated | relid=0 | w=31
  2453. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:mutational analysis revealed that the original weissenbacher-zweymuller patient had non-ophthalmic stickler syndrome (stkl3, 184840)
    n1=en:incidence of 1 in 250,000 births | n2=en:mutational analysis revealed that the original weissenbacher-zweymuller patient had non-ophthalmic stickler syndrome (stkl3, 184840) | rel=r_associated | relid=0 | w=31
  2454. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:mutations occur de novo
    n1=en:incidence of 1 in 250,000 births | n2=en:mutations occur de novo | rel=r_associated | relid=0 | w=31
  2455. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:myoclonic seizures occur on awakening or within 2 hours of awakening
    n1=en:incidence of 1 in 250,000 births | n2=en:myoclonic seizures occur on awakening or within 2 hours of awakening | rel=r_associated | relid=0 | w=31
  2456. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:neonatal lethal due to respiratory insufficiency
    n1=en:incidence of 1 in 250,000 births | n2=en:neonatal lethal due to respiratory insufficiency | rel=r_associated | relid=0 | w=31
  2457. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:neonatal onset
    n1=en:incidence of 1 in 250,000 births | n2=en:neonatal onset | rel=r_associated | relid=0 | w=31
  2458. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:neonatal onset of nephrotic syndrome
    n1=en:incidence of 1 in 250,000 births | n2=en:neonatal onset of nephrotic syndrome | rel=r_associated | relid=0 | w=31
  2459. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:neurologic deterioration is severe after age 2 to 2.5 years
    n1=en:incidence of 1 in 250,000 births | n2=en:neurologic deterioration is severe after age 2 to 2.5 years | rel=r_associated | relid=0 | w=31
  2460. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:neurologic features have been diagnosed in ~30% of cases
    n1=en:incidence of 1 in 250,000 births | n2=en:neurologic features have been diagnosed in ~30% of cases | rel=r_associated | relid=0 | w=31
  2461. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:neurologic features occur later in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:neurologic features occur later in childhood | rel=r_associated | relid=0 | w=31
  2462. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:newborn period is critical for survival
    n1=en:incidence of 1 in 250,000 births | n2=en:newborn period is critical for survival | rel=r_associated | relid=0 | w=31
  2463. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:no congenital form
    n1=en:incidence of 1 in 250,000 births | n2=en:no congenital form | rel=r_associated | relid=0 | w=31
  2464. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene
    n1=en:incidence of 1 in 250,000 births | n2=en:no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene | rel=r_associated | relid=0 | w=31
  2465. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:no response or worsening with acetylcholinesterase inhibitors
    n1=en:incidence of 1 in 250,000 births | n2=en:no response or worsening with acetylcholinesterase inhibitors | rel=r_associated | relid=0 | w=31
  2466. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:normal alleles contain 15 to 50 repeats
    n1=en:incidence of 1 in 250,000 births | n2=en:normal alleles contain 15 to 50 repeats | rel=r_associated | relid=0 | w=31
  2467. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:normal range of expanded repeats 9-29, hd range 36-121
    n1=en:incidence of 1 in 250,000 births | n2=en:normal range of expanded repeats 9-29, hd range 36-121 | rel=r_associated | relid=0 | w=31
  2468. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> 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:incidence of 1 in 250,000 births | 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=31
  2469. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:occurs at age 20-50 years
    n1=en:incidence of 1 in 250,000 births | n2=en:occurs at age 20-50 years | rel=r_associated | relid=0 | w=31
  2470. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:occurs in ~3% pregnancies in western populations
    n1=en:incidence of 1 in 250,000 births | n2=en:occurs in ~3% pregnancies in western populations | rel=r_associated | relid=0 | w=31
  2471. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:occurs in the absence of trauma
    n1=en:incidence of 1 in 250,000 births | n2=en:occurs in the absence of trauma | rel=r_associated | relid=0 | w=31
  2472. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:occurs most often in developing countries in tropical regions
    n1=en:incidence of 1 in 250,000 births | n2=en:occurs most often in developing countries in tropical regions | rel=r_associated | relid=0 | w=31
  2473. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:one consanguineous family of indian descent has been reported (last curated january 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:one consanguineous family of indian descent has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=31
  2474. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:one consanguineous pakistani family has been reported (last curated june 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one consanguineous pakistani family has been reported (last curated june 2012) | rel=r_associated | relid=0 | w=31
  2475. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:one consanguineous saudi family had additional features of microcephaly, mental retardation, ophthalmoplegia, and syndactyly
    n1=en:incidence of 1 in 250,000 births | n2=en:one consanguineous saudi family had additional features of microcephaly, mental retardation, ophthalmoplegia, and syndactyly | rel=r_associated | relid=0 | w=31
  2476. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:one family has been reported (as of april 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (as of april 2012) | rel=r_associated | relid=0 | w=31
  2477. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:one family has been reported (as of january 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (as of january 2012) | rel=r_associated | relid=0 | w=31
  2478. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:one family has been reported (last curated march 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (last curated march 2015) | rel=r_associated | relid=0 | w=31
  2479. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:one family has been reported and no additional clinical features were provided (last curated june 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported and no additional clinical features were provided (last curated june 2013) | rel=r_associated | relid=0 | w=31
  2480. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:one family of french-canadian origin has been reported (last curated august 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family of french-canadian origin has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=31
  2481. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:one family of mali origin has been reported (last curated january 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family of mali origin has been reported (last curated january 2013) | rel=r_associated | relid=0 | w=31
  2482. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:one family reported (as of november 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family reported (as of november 2011) | rel=r_associated | relid=0 | w=31
  2483. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:one family with 2 patients has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:one family with 2 patients has been reported | rel=r_associated | relid=0 | w=31
  2484. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> 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:incidence of 1 in 250,000 births | 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=31
  2485. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:one individual carried a heterozygous mutation, whereas the other carried a homozygous mutation.
    n1=en:incidence of 1 in 250,000 births | n2=en:one individual carried a heterozygous mutation, whereas the other carried a homozygous mutation. | rel=r_associated | relid=0 | w=31
  2486. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:one large consanguineous arab muslim family has been reported (as of september 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:one large consanguineous arab muslim family has been reported (as of september 2011) | rel=r_associated | relid=0 | w=31
  2487. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:one pakistani family reported (last curated november 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one pakistani family reported (last curated november 2012) | rel=r_associated | relid=0 | w=31
  2488. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:one patient described (last curated december 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient described (last curated december 2013) | rel=r_associated | relid=0 | w=31
  2489. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:one patient described as having bbs, but with no clinical details has been reported (last curated october 2014)
    n1=en:incidence of 1 in 250,000 births | 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=31
  2490. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:one patient died at age 7 years
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient died at age 7 years | rel=r_associated | relid=0 | w=31
  2491. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> 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:incidence of 1 in 250,000 births | 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=31
  2492. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:one patient had onset at age 4 months after normal development
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient had onset at age 4 months after normal development | rel=r_associated | relid=0 | w=31
  2493. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:one patient has been reported (as of april 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient has been reported (as of april 2011) | rel=r_associated | relid=0 | w=31
  2494. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:one patient has been reported (as of july 2010)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient has been reported (as of july 2010) | rel=r_associated | relid=0 | w=31
  2495. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:one patient has been reported (as of sept 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient has been reported (as of sept 2011) | rel=r_associated | relid=0 | w=31
  2496. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:one patient has been reported (last curated january 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient has been reported (last curated january 2014) | rel=r_associated | relid=0 | w=31
  2497. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:one patient has been reported (last curated july 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient has been reported (last curated july 2013) | rel=r_associated | relid=0 | w=31
  2498. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:one patient has had favorable response to high dose coenzyme q10 supplementation in combination with other medications
    n1=en:incidence of 1 in 250,000 births | 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=31
  2499. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:one spanish family has been reported (last curated august 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one spanish family has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=31
  2500. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:only some patients showed neurologic involvement
    n1=en:incidence of 1 in 250,000 births | n2=en:only some patients showed neurologic involvement | rel=r_associated | relid=0 | w=31
  2501. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset <30 months
    n1=en:incidence of 1 in 250,000 births | n2=en:onset <30 months | rel=r_associated | relid=0 | w=31
  2502. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset 3rd to 4th decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset 3rd to 4th decade of life | rel=r_associated | relid=0 | w=31
  2503. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset 6 to 18 months
    n1=en:incidence of 1 in 250,000 births | n2=en:onset 6 to 18 months | rel=r_associated | relid=0 | w=31
  2504. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset 6-13 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset 6-13 years | rel=r_associated | relid=0 | w=31
  2505. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset 7 to 15 months of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset 7 to 15 months of age | rel=r_associated | relid=0 | w=31
  2506. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset before 18 months of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset before 18 months of age | rel=r_associated | relid=0 | w=31
  2507. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset before 50 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset before 50 years of age | rel=r_associated | relid=0 | w=31
  2508. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset between 3 and 6 months of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between 3 and 6 months of age | rel=r_associated | relid=0 | w=31
  2509. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset beyond the second year of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset beyond the second year of life | rel=r_associated | relid=0 | w=31
  2510. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset bimodal, ages 16-22 and ages 57-60
    n1=en:incidence of 1 in 250,000 births | n2=en:onset bimodal, ages 16-22 and ages 57-60 | rel=r_associated | relid=0 | w=31
  2511. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset in childhood (later than in antenatal bartter syndrome 241200)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood (later than in antenatal bartter syndrome 241200) | rel=r_associated | relid=0 | w=31
  2512. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset in childhood or adolescence in most patients
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood or adolescence in most patients | rel=r_associated | relid=0 | w=31
  2513. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset in childhood, adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood, adolescence | rel=r_associated | relid=0 | w=31
  2514. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset in childhood, adolescence, and adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood, adolescence, and adulthood | rel=r_associated | relid=0 | w=31
  2515. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset in early infancy, between 2 weeks and 3 months
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in early infancy, between 2 weeks and 3 months | rel=r_associated | relid=0 | w=31
  2516. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset in early twenties
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in early twenties | rel=r_associated | relid=0 | w=31
  2517. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset in first 6 months of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in first 6 months of life | rel=r_associated | relid=0 | w=31
  2518. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset in first decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in first decade of life | rel=r_associated | relid=0 | w=31
  2519. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset in infancy (3 to 7 months)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in infancy (3 to 7 months) | rel=r_associated | relid=0 | w=31
  2520. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset in infancy or childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in infancy or childhood | rel=r_associated | relid=0 | w=31
  2521. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset in infancy or childhood (range 1 to 13 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in infancy or childhood (range 1 to 13 years) | rel=r_associated | relid=0 | w=31
  2522. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset in infancy or first years of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in infancy or first years of life | rel=r_associated | relid=0 | w=31
  2523. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset in middle age (44 to 60 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in middle age (44 to 60 years) | rel=r_associated | relid=0 | w=31
  2524. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset in second decade or as young adult
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in second decade or as young adult | rel=r_associated | relid=0 | w=31
  2525. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset in teenage years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in teenage years | rel=r_associated | relid=0 | w=31
  2526. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset in teens has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in teens has been reported | rel=r_associated | relid=0 | w=31
  2527. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset in the first decade (range birth to 8 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in the first decade (range birth to 8 years) | rel=r_associated | relid=0 | w=31
  2528. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset in the first months of life (3 to 7 months)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in the first months of life (3 to 7 months) | rel=r_associated | relid=0 | w=31
  2529. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset of autoinflammation in infancy or first few years of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of autoinflammation in infancy or first few years of life | rel=r_associated | relid=0 | w=31
  2530. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset of bone fragility in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of bone fragility in childhood | rel=r_associated | relid=0 | w=31
  2531. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset of calf hypotrophy may occur earlier
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of calf hypotrophy may occur earlier | rel=r_associated | relid=0 | w=31
  2532. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset of clinical features around puberty
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of clinical features around puberty | rel=r_associated | relid=0 | w=31
  2533. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset of dysmorphic features and developmental delay in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of dysmorphic features and developmental delay in infancy | rel=r_associated | relid=0 | w=31
  2534. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset of end-stage renal disease 15 to 20 years after onset
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of end-stage renal disease 15 to 20 years after onset | rel=r_associated | relid=0 | w=31
  2535. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset of gait abnormalities at 8 to 40 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of gait abnormalities at 8 to 40 years | rel=r_associated | relid=0 | w=31
  2536. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset of hearing loss in late childhood or adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of hearing loss in late childhood or adolescence | rel=r_associated | relid=0 | w=31
  2537. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset of hearing loss prior to or during adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of hearing loss prior to or during adolescence | rel=r_associated | relid=0 | w=31
  2538. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset of seizures in later childhood (5 to 10 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of seizures in later childhood (5 to 10 years) | rel=r_associated | relid=0 | w=31
  2539. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset of thrombosis by age 2 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of thrombosis by age 2 years | rel=r_associated | relid=0 | w=31
  2540. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset prenatally or at birth
    n1=en:incidence of 1 in 250,000 births | n2=en:onset prenatally or at birth | rel=r_associated | relid=0 | w=31
  2541. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset ranges from 2 days to 7 months (most at 2-3 months)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset ranges from 2 days to 7 months (most at 2-3 months) | rel=r_associated | relid=0 | w=31
  2542. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset usually before age 40 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually before age 40 years | rel=r_associated | relid=0 | w=31
  2543. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset usually between 30 and 50 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually between 30 and 50 years of age | rel=r_associated | relid=0 | w=31
  2544. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset usually in adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in adulthood | rel=r_associated | relid=0 | w=31
  2545. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset usually in childhood (range infancy to late childhood)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in childhood (range infancy to late childhood) | rel=r_associated | relid=0 | w=31
  2546. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:onset usually in first to third decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in first to third decade of life | rel=r_associated | relid=0 | w=31
  2547. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> 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:incidence of 1 in 250,000 births | 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=31
  2548. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:pathogenic cag repeat length is 51 to 78 triplets
    n1=en:incidence of 1 in 250,000 births | n2=en:pathogenic cag repeat length is 51 to 78 triplets | rel=r_associated | relid=0 | w=31
  2549. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:patients are susceptible to sepsis and dehydration
    n1=en:incidence of 1 in 250,000 births | n2=en:patients are susceptible to sepsis and dehydration | rel=r_associated | relid=0 | w=31
  2550. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:patients exhibit no signs of ocular or cutaneous albinism
    n1=en:incidence of 1 in 250,000 births | n2=en:patients exhibit no signs of ocular or cutaneous albinism | rel=r_associated | relid=0 | w=31
  2551. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:patients from 4 unrelated families have been reported (as of october 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:patients from 4 unrelated families have been reported (as of october 2011) | rel=r_associated | relid=0 | w=31
  2552. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:patients gradually develop tolerance to carbohydrates over time
    n1=en:incidence of 1 in 250,000 births | n2=en:patients gradually develop tolerance to carbohydrates over time | rel=r_associated | relid=0 | w=31
  2553. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels
    n1=en:incidence of 1 in 250,000 births | n2=en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels | rel=r_associated | relid=0 | w=31
  2554. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:patients look as if they have protein deficiency or malnutrition
    n1=en:incidence of 1 in 250,000 births | n2=en:patients look as if they have protein deficiency or malnutrition | rel=r_associated | relid=0 | w=31
  2555. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:patients may become ventilator-dependent
    n1=en:incidence of 1 in 250,000 births | n2=en:patients may become ventilator-dependent | rel=r_associated | relid=0 | w=31
  2556. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:patients may have recurrent infections due to immunosuppressive therapy
    n1=en:incidence of 1 in 250,000 births | n2=en:patients may have recurrent infections due to immunosuppressive therapy | rel=r_associated | relid=0 | w=31
  2557. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:patients may require implantable cardioverter defibrillators
    n1=en:incidence of 1 in 250,000 births | n2=en:patients may require implantable cardioverter defibrillators | rel=r_associated | relid=0 | w=31
  2558. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:patients with mutation in the nhlrc1 gene have slightly longer survival
    n1=en:incidence of 1 in 250,000 births | n2=en:patients with mutation in the nhlrc1 gene have slightly longer survival | rel=r_associated | relid=0 | w=31
  2559. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:pavm more frequent in hht1 than hht2
    n1=en:incidence of 1 in 250,000 births | n2=en:pavm more frequent in hht1 than hht2 | rel=r_associated | relid=0 | w=31
  2560. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:persistence of febrile seizures beyond age 6 years
    n1=en:incidence of 1 in 250,000 births | n2=en:persistence of febrile seizures beyond age 6 years | rel=r_associated | relid=0 | w=31
  2561. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:phenotype may be exacerbated by maltreatment in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotype may be exacerbated by maltreatment in childhood | rel=r_associated | relid=0 | w=31
  2562. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:phenotypic overlap with albright hereditary osteodystrophy (aho, 103580) and smith-magenis syndrome (sms, 182290)
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic overlap with albright hereditary osteodystrophy (aho, 103580) and smith-magenis syndrome (sms, 182290) | rel=r_associated | relid=0 | w=31
  2563. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:phenotypic overlap with neurofibromatosis 1 (nf1, 162200)
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic overlap with neurofibromatosis 1 (nf1, 162200) | rel=r_associated | relid=0 | w=31
  2564. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:phenotypic similarities to costello syndrome (218040)
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic similarities to costello syndrome (218040) | rel=r_associated | relid=0 | w=31
  2565. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:predominantly occurs in young males with high rate of atopic disease
    n1=en:incidence of 1 in 250,000 births | n2=en:predominantly occurs in young males with high rate of atopic disease | rel=r_associated | relid=0 | w=31
  2566. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:premature death may occur
    n1=en:incidence of 1 in 250,000 births | n2=en:premature death may occur | rel=r_associated | relid=0 | w=31
  2567. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:preponderance of affected females (80%) to males
    n1=en:incidence of 1 in 250,000 births | n2=en:preponderance of affected females (80%) to males | rel=r_associated | relid=0 | w=31
  2568. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:presentation in childhood includes waddling gait and knee pain/stiffness
    n1=en:incidence of 1 in 250,000 births | n2=en:presentation in childhood includes waddling gait and knee pain/stiffness | rel=r_associated | relid=0 | w=31
  2569. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:presentation in early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:presentation in early childhood | rel=r_associated | relid=0 | w=31
  2570. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:prevalence is estimated to be 1 in 150,000
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence is estimated to be 1 in 150,000 | rel=r_associated | relid=0 | w=31
  2571. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:prevalence of 0.6 to 10 per 100,000 individuals
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 0.6 to 10 per 100,000 individuals | rel=r_associated | relid=0 | w=31
  2572. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:prevalence of 1 in 28,000 caucasians
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 1 in 28,000 caucasians | rel=r_associated | relid=0 | w=31
  2573. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:prevalence of 1 in 3,000
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 1 in 3,000 | rel=r_associated | relid=0 | w=31
  2574. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:prevalence of 1 in 30,000 in northern europe
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 1 in 30,000 in northern europe | rel=r_associated | relid=0 | w=31
  2575. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:prevalence of 1 in 6,000 to 1 in 10,000
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 1 in 6,000 to 1 in 10,000 | rel=r_associated | relid=0 | w=31
  2576. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:prevalence of 2-7% in english-speaking preschool children
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 2-7% in english-speaking preschool children | rel=r_associated | relid=0 | w=31
  2577. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:prevalence of sleepwalking about 3% in adults
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of sleepwalking about 3% in adults | rel=r_associated | relid=0 | w=31
  2578. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:prevalence of true hypoprothrombinemia is 1 in 2 million
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of true hypoprothrombinemia is 1 in 2 million | rel=r_associated | relid=0 | w=31
  2579. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:prevalent among the amish
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalent among the amish | rel=r_associated | relid=0 | w=31
  2580. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache
    n1=en:incidence of 1 in 250,000 births | n2=en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache | rel=r_associated | relid=0 | w=31
  2581. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:progression to profound hearing loss affecting all frequencies
    n1=en:incidence of 1 in 250,000 births | n2=en:progression to profound hearing loss affecting all frequencies | rel=r_associated | relid=0 | w=31
  2582. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:progressive disorder, with older patients exhibiting more severe symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:progressive disorder, with older patients exhibiting more severe symptoms | rel=r_associated | relid=0 | w=31
  2583. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:rapidly progressive (6-24 months)
    n1=en:incidence of 1 in 250,000 births | n2=en:rapidly progressive (6-24 months) | rel=r_associated | relid=0 | w=31
  2584. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea
    n1=en:incidence of 1 in 250,000 births | n2=en:recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea | rel=r_associated | relid=0 | w=31
  2585. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:reduced life expectancy
    n1=en:incidence of 1 in 250,000 births | n2=en:reduced life expectancy | rel=r_associated | relid=0 | w=31
  2586. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:reference lab test name:type:time reported elsewhere:reference lab test:nominal
    n1=en:incidence of 1 in 250,000 births | n2=en:reference lab test name:type:time reported elsewhere:reference lab test:nominal | rel=r_associated | relid=0 | w=31
  2587. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative
    n1=en:incidence of 1 in 250,000 births | n2=en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative | rel=r_associated | relid=0 | w=31
  2588. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:renal failure in second or third decade
    n1=en:incidence of 1 in 250,000 births | n2=en:renal failure in second or third decade | rel=r_associated | relid=0 | w=31
  2589. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:reported in individuals of french canadian origin
    n1=en:incidence of 1 in 250,000 births | n2=en:reported in individuals of french canadian origin | rel=r_associated | relid=0 | w=31
  2590. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:responsive to vitamin b12 therapy
    n1=en:incidence of 1 in 250,000 births | n2=en:responsive to vitamin b12 therapy | rel=r_associated | relid=0 | w=31
  2591. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:risk of sudden death
    n1=en:incidence of 1 in 250,000 births | n2=en:risk of sudden death | rel=r_associated | relid=0 | w=31
  2592. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:secondary tumors develop within the skin lesions
    n1=en:incidence of 1 in 250,000 births | n2=en:secondary tumors develop within the skin lesions | rel=r_associated | relid=0 | w=31
  2593. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:see also antenatal bartter syndrome type 1 (601678) and bartter syndrome type 2 (241200)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also antenatal bartter syndrome type 1 (601678) and bartter syndrome type 2 (241200) | rel=r_associated | relid=0 | w=31
  2594. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:see also autosomal dominant giant axonal neuropathy (610100)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also autosomal dominant giant axonal neuropathy (610100) | rel=r_associated | relid=0 | w=31
  2595. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:see also autosomal recessive robinow syndrome (268310)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also autosomal recessive robinow syndrome (268310) | rel=r_associated | relid=0 | w=31
  2596. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:see also french-canadian type of leigh syndrome (220111)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also french-canadian type of leigh syndrome (220111) | rel=r_associated | relid=0 | w=31
  2597. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> 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:incidence of 1 in 250,000 births | 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=31
  2598. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:see also junctional eb with pyloric atresia (226730)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also junctional eb with pyloric atresia (226730) | rel=r_associated | relid=0 | w=31
  2599. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:see also the lethal neonatal (608836) and infantile (600649) forms
    n1=en:incidence of 1 in 250,000 births | n2=en:see also the lethal neonatal (608836) and infantile (600649) forms | rel=r_associated | relid=0 | w=31
  2600. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:seizures are followed by drowsiness in most cases
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures are followed by drowsiness in most cases | rel=r_associated | relid=0 | w=31
  2601. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:seizures are responsive to pyridoxine treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures are responsive to pyridoxine treatment | rel=r_associated | relid=0 | w=31
  2602. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:seizures are sensitive to hyperventilation
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures are sensitive to hyperventilation | rel=r_associated | relid=0 | w=31
  2603. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:seizures may remit with age (in some patients)
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures may remit with age (in some patients) | rel=r_associated | relid=0 | w=31
  2604. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:seizures remit by age 5 years
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures remit by age 5 years | rel=r_associated | relid=0 | w=31
  2605. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:seizures remit in later childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures remit in later childhood | rel=r_associated | relid=0 | w=31
  2606. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:service comment 04:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=31
  2607. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:service comment 16:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=31
  2608. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:service comment 29:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=31
  2609. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:service comment 36:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=31
  2610. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:service comment 41:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=31
  2611. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:service comment 47:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=31
  2612. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:service comment 57:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=31
  2613. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:service comment 61:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=31
  2614. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:service comment 65:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=31
  2615. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:service comment 66:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=31
  2616. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:service comment 67:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=31
  2617. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:several forms of autosomal recessive spastic paraplegia (see 270800)
    n1=en:incidence of 1 in 250,000 births | n2=en:several forms of autosomal recessive spastic paraplegia (see 270800) | rel=r_associated | relid=0 | w=31
  2618. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:severe form with onset at 3 to 4 months of age and severe developmental delay
    n1=en:incidence of 1 in 250,000 births | n2=en:severe form with onset at 3 to 4 months of age and severe developmental delay | rel=r_associated | relid=0 | w=31
  2619. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:severe hearing loss by age 50 years
    n1=en:incidence of 1 in 250,000 births | n2=en:severe hearing loss by age 50 years | rel=r_associated | relid=0 | w=31
  2620. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:severe neurodegenerative course resulting in a comatose state or death
    n1=en:incidence of 1 in 250,000 births | n2=en:severe neurodegenerative course resulting in a comatose state or death | rel=r_associated | relid=0 | w=31
  2621. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:severe phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:severe phenotype | rel=r_associated | relid=0 | w=31
  2622. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:similar to infantile neuroaxonal dystrophy (inad, 256600)
    n1=en:incidence of 1 in 250,000 births | n2=en:similar to infantile neuroaxonal dystrophy (inad, 256600) | rel=r_associated | relid=0 | w=31
  2623. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:single lesions in sporadic cases
    n1=en:incidence of 1 in 250,000 births | n2=en:single lesions in sporadic cases | rel=r_associated | relid=0 | w=31
  2624. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:six patients have been reported (5/18/2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:six patients have been reported (5/18/2011) | rel=r_associated | relid=0 | w=31
  2625. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:skeletal and endocrine features have not been fully characterized in all of the patients reported
    n1=en:incidence of 1 in 250,000 births | n2=en:skeletal and endocrine features have not been fully characterized in all of the patients reported | rel=r_associated | relid=0 | w=31
  2626. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:skin abnormalities tend to decrease with age
    n1=en:incidence of 1 in 250,000 births | n2=en:skin abnormalities tend to decrease with age | rel=r_associated | relid=0 | w=31
  2627. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:skin erythroderma may resolve early, leaving atrophic lesions
    n1=en:incidence of 1 in 250,000 births | n2=en:skin erythroderma may resolve early, leaving atrophic lesions | rel=r_associated | relid=0 | w=31
  2628. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:skin lesions are fully penetrant by second decade
    n1=en:incidence of 1 in 250,000 births | n2=en:skin lesions are fully penetrant by second decade | rel=r_associated | relid=0 | w=31
  2629. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:skin lesions resolve between 6 months and 2 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:skin lesions resolve between 6 months and 2 years of age | rel=r_associated | relid=0 | w=31
  2630. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:sleepwalking usually remits in adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:sleepwalking usually remits in adolescence | rel=r_associated | relid=0 | w=31
  2631. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:slow progression without marked disability
    n1=en:incidence of 1 in 250,000 births | n2=en:slow progression without marked disability | rel=r_associated | relid=0 | w=31
  2632. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:solitary disease is more common in males
    n1=en:incidence of 1 in 250,000 births | n2=en:solitary disease is more common in males | rel=r_associated | relid=0 | w=31
  2633. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:some heterozygous carriers may have mild manifestations
    n1=en:incidence of 1 in 250,000 births | n2=en:some heterozygous carriers may have mild manifestations | rel=r_associated | relid=0 | w=31
  2634. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:some more severely affected patients may die in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:some more severely affected patients may die in infancy | rel=r_associated | relid=0 | w=31
  2635. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:some patients carry heterozygous mutations
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients carry heterozygous mutations | rel=r_associated | relid=0 | w=31
  2636. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:some patients develop diabetes mellitus as adolescents
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients develop diabetes mellitus as adolescents | rel=r_associated | relid=0 | w=31
  2637. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:some patients do not manifest renal disease in the first decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients do not manifest renal disease in the first decade of life | rel=r_associated | relid=0 | w=31
  2638. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:some patients experience later reversal of hypogonadotropic hypogonadism
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients experience later reversal of hypogonadotropic hypogonadism | rel=r_associated | relid=0 | w=31
  2639. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:some patients have a severe phenotype with neurologic manifestations beginning at birth
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients have a severe phenotype with neurologic manifestations beginning at birth | rel=r_associated | relid=0 | w=31
  2640. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:some patients have persistence of seizures to adulthood, but then show remission
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients have persistence of seizures to adulthood, but then show remission | rel=r_associated | relid=0 | w=31
  2641. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:some patients report seasonal variation in symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients report seasonal variation in symptoms | rel=r_associated | relid=0 | w=31
  2642. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:some patients require insulin for treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients require insulin for treatment | rel=r_associated | relid=0 | w=31
  2643. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:some patients show delayed development from birth
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients show delayed development from birth | rel=r_associated | relid=0 | w=31
  2644. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> 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:incidence of 1 in 250,000 births | 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=31
  2645. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons
    n1=en:incidence of 1 in 250,000 births | n2=en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons | rel=r_associated | relid=0 | w=31
  2646. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:stage iv, late motor deterioration (when ambulation ceases)
    n1=en:incidence of 1 in 250,000 births | n2=en:stage iv, late motor deterioration (when ambulation ceases) | rel=r_associated | relid=0 | w=31
  2647. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:stickler syndrome (108300) and marshall syndrome share several characteristics such as midface hypoplasia, high myopia, and sensorineural hearing loss
    n1=en:incidence of 1 in 250,000 births | 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=31
  2648. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:stillborn or infantile death usual in prenatal form
    n1=en:incidence of 1 in 250,000 births | n2=en:stillborn or infantile death usual in prenatal form | rel=r_associated | relid=0 | w=31
  2649. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:subset of patients have leigh syndrome (256000)
    n1=en:incidence of 1 in 250,000 births | n2=en:subset of patients have leigh syndrome (256000) | rel=r_associated | relid=0 | w=31
  2650. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:sudden infant death may occur
    n1=en:incidence of 1 in 250,000 births | n2=en:sudden infant death may occur | rel=r_associated | relid=0 | w=31
  2651. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:survival to advanced age
    n1=en:incidence of 1 in 250,000 births | n2=en:survival to advanced age | rel=r_associated | relid=0 | w=31
  2652. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:survivors may develop renal insufficiency and hepatic dysfunction
    n1=en:incidence of 1 in 250,000 births | n2=en:survivors may develop renal insufficiency and hepatic dysfunction | rel=r_associated | relid=0 | w=31
  2653. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:symptoms begin focally, later segmental or generalized
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms begin focally, later segmental or generalized | rel=r_associated | relid=0 | w=31
  2654. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:symptoms relieved by progesterone antagonist (in some patients)
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms relieved by progesterone antagonist (in some patients) | rel=r_associated | relid=0 | w=31
  2655. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists
    n1=en:incidence of 1 in 250,000 births | n2=en:the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists | rel=r_associated | relid=0 | w=31
  2656. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:this patient died at age 8 months
    n1=en:incidence of 1 in 250,000 births | n2=en:this patient died at age 8 months | rel=r_associated | relid=0 | w=31
  2657. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:three patients from 1 french canadian family have been reported (last curated november 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:three patients from 1 french canadian family have been reported (last curated november 2014) | rel=r_associated | relid=0 | w=31
  2658. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:three unrelated families have been reported (last curated january 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:three unrelated families have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=31
  2659. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:three unrelated families have been reported (last curated june 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:three unrelated families have been reported (last curated june 2012) | rel=r_associated | relid=0 | w=31
  2660. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:three unrelated patients have been reported (last curated july 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:three unrelated patients have been reported (last curated july 2013) | rel=r_associated | relid=0 | w=31
  2661. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy
    n1=en:incidence of 1 in 250,000 births | n2=en:treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy | rel=r_associated | relid=0 | w=31
  2662. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:tremor is aggravated by low glucose or light
    n1=en:incidence of 1 in 250,000 births | n2=en:tremor is aggravated by low glucose or light | rel=r_associated | relid=0 | w=31
  2663. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:triggered by exercise, fasting, or other metabolic stresses
    n1=en:incidence of 1 in 250,000 births | n2=en:triggered by exercise, fasting, or other metabolic stresses | rel=r_associated | relid=0 | w=31
  2664. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:trps2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both trps1 (190350) and ext1 (608177) genes
    n1=en:incidence of 1 in 250,000 births | 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=31
  2665. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:twelve or more lesions per eye in individuals over 60 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:twelve or more lesions per eye in individuals over 60 years of age | rel=r_associated | relid=0 | w=31
  2666. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:two affected sibs have been reported (last curated july 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two affected sibs have been reported (last curated july 2014) | rel=r_associated | relid=0 | w=31
  2667. en:incidence of 1 in 250,000 births -- 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:incidence of 1 in 250,000 births | 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
  2668. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:two families have been reported (as of 6/2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:two families have been reported (as of 6/2011) | rel=r_associated | relid=0 | w=31
  2669. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:two families have been reported (as of september 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:two families have been reported (as of september 2011) | rel=r_associated | relid=0 | w=31
  2670. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:two of 3 patients became wheelchair-bound
    n1=en:incidence of 1 in 250,000 births | n2=en:two of 3 patients became wheelchair-bound | rel=r_associated | relid=0 | w=31
  2671. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:two patients required liver transplantation
    n1=en:incidence of 1 in 250,000 births | n2=en:two patients required liver transplantation | rel=r_associated | relid=0 | w=31
  2672. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:two peaks of onset, childhood and adult
    n1=en:incidence of 1 in 250,000 births | n2=en:two peaks of onset, childhood and adult | rel=r_associated | relid=0 | w=31
  2673. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood | rel=r_associated | relid=0 | w=31
  2674. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:two sisters have been reported (last curated february 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:two sisters have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=31
  2675. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:two sisters, born of consanguineous moroccan parents, have been reported (last curated october 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two sisters, born of consanguineous moroccan parents, have been reported (last curated october 2014) | rel=r_associated | relid=0 | w=31
  2676. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> 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:incidence of 1 in 250,000 births | 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=31
  2677. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:two unrelated chinese families have been reported (last curated february 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated chinese families have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=31
  2678. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:two unrelated patients have been reported (as of august 2010)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients have been reported (as of august 2010) | rel=r_associated | relid=0 | w=31
  2679. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:two unrelated patients have been reported (as of january 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients have been reported (as of january 2012) | rel=r_associated | relid=0 | w=31
  2680. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:two unrelated patients have been reported (last curated september 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients have been reported (last curated september 2013) | rel=r_associated | relid=0 | w=31
  2681. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:two unrelated patients reported (last curated september 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients reported (last curated september 2012) | rel=r_associated | relid=0 | w=31
  2682. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:type 1 porencephaly is usually unilateral and results from destructive lesions
    n1=en:incidence of 1 in 250,000 births | n2=en:type 1 porencephaly is usually unilateral and results from destructive lesions | rel=r_associated | relid=0 | w=31
  2683. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic
    n1=en:incidence of 1 in 250,000 births | n2=en:type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic | rel=r_associated | relid=0 | w=31
  2684. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:type 2m is characterized by decreased platelet adhesion in the presence of high molecular weight monomers
    n1=en:incidence of 1 in 250,000 births | n2=en:type 2m is characterized by decreased platelet adhesion in the presence of high molecular weight monomers | rel=r_associated | relid=0 | w=31
  2685. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:type 2n shows autosomal recessive inheritance
    n1=en:incidence of 1 in 250,000 births | n2=en:type 2n shows autosomal recessive inheritance | rel=r_associated | relid=0 | w=31
  2686. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:type i has most severe manifestations by age 4-5 years
    n1=en:incidence of 1 in 250,000 births | n2=en:type i has most severe manifestations by age 4-5 years | rel=r_associated | relid=0 | w=31
  2687. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:type ii patients are usually japanese and have significant aprt activity (10-25%)
    n1=en:incidence of 1 in 250,000 births | n2=en:type ii patients are usually japanese and have significant aprt activity (10-25%) | rel=r_associated | relid=0 | w=31
  2688. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:type iiib liver involvement only (15% of all cases)
    n1=en:incidence of 1 in 250,000 births | n2=en:type iiib liver involvement only (15% of all cases) | rel=r_associated | relid=0 | w=31
  2689. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:usually a sporadic disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:usually a sporadic disorder | rel=r_associated | relid=0 | w=31
  2690. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:usually progressive
    n1=en:incidence of 1 in 250,000 births | n2=en:usually progressive | rel=r_associated | relid=0 | w=31
  2691. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800)
    n1=en:incidence of 1 in 250,000 births | n2=en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800) | rel=r_associated | relid=0 | w=31
  2692. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:variable age at onset (infant to adult)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (infant to adult) | rel=r_associated | relid=0 | w=31
  2693. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:variable age at onset (range birth to 60 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (range birth to 60 years) | rel=r_associated | relid=0 | w=31
  2694. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:variable age at onset, early childhood to adult
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset, early childhood to adult | rel=r_associated | relid=0 | w=31
  2695. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:variable age of onset (range first to third decade)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age of onset (range first to third decade) | rel=r_associated | relid=0 | w=31
  2696. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:variable clinical phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:variable clinical phenotype | rel=r_associated | relid=0 | w=31
  2697. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:variable degree of severity of widening and deviation of fifth fingers, both within and between affected individuals
    n1=en:incidence of 1 in 250,000 births | 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=31
  2698. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:variable disease severity
    n1=en:incidence of 1 in 250,000 births | n2=en:variable disease severity | rel=r_associated | relid=0 | w=31
  2699. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:variable expressivity
    n1=en:incidence of 1 in 250,000 births | n2=en:variable expressivity | rel=r_associated | relid=0 | w=31
  2700. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:variable phenotype (range from completely female to males with mild undermasculinization)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable phenotype (range from completely female to males with mild undermasculinization) | rel=r_associated | relid=0 | w=31
  2701. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:variable phenotype ranging from woolly to sparse hair, even within a single family
    n1=en:incidence of 1 in 250,000 births | n2=en:variable phenotype ranging from woolly to sparse hair, even within a single family | rel=r_associated | relid=0 | w=31
  2702. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:variable phenotype within families
    n1=en:incidence of 1 in 250,000 births | n2=en:variable phenotype within families | rel=r_associated | relid=0 | w=31
  2703. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:variable presentation
    n1=en:incidence of 1 in 250,000 births | n2=en:variable presentation | rel=r_associated | relid=0 | w=31
  2704. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:variant at may present with dystonia only
    n1=en:incidence of 1 in 250,000 births | n2=en:variant at may present with dystonia only | rel=r_associated | relid=0 | w=31
  2705. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:waddling gait noted at age 15-20 months
    n1=en:incidence of 1 in 250,000 births | n2=en:waddling gait noted at age 15-20 months | rel=r_associated | relid=0 | w=31
  2706. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:wheelchair use at 20-30 years
    n1=en:incidence of 1 in 250,000 births | n2=en:wheelchair use at 20-30 years | rel=r_associated | relid=0 | w=31
  2707. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:wide range of onset from childhood to adult (10 to 50 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:wide range of onset from childhood to adult (10 to 50 years) | rel=r_associated | relid=0 | w=31
  2708. en:incidence of 1 in 250,000 births -- r_associated #0: 31 / 0.721 -> en:women may be mildly affected
    n1=en:incidence of 1 in 250,000 births | n2=en:women may be mildly affected | rel=r_associated | relid=0 | w=31
  2709. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:'variant 2' has isolated methylmalonicaciduria and decreased adocbl
    n1=en:incidence of 1 in 250,000 births | n2=en:'variant 2' has isolated methylmalonicaciduria and decreased adocbl | rel=r_associated | relid=0 | w=30
  2710. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:(1) infantile nephropathic (219800)
    n1=en:incidence of 1 in 250,000 births | n2=en:(1) infantile nephropathic (219800) | rel=r_associated | relid=0 | w=30
  2711. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:(3) intermediate
    n1=en:incidence of 1 in 250,000 births | n2=en:(3) intermediate | rel=r_associated | relid=0 | w=30
  2712. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:14 patients in 8 recessive kindreds reported (as of february 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:14 patients in 8 recessive kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=30
  2713. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:35% of patients have facial dysmorphism
    n1=en:incidence of 1 in 250,000 births | n2=en:35% of patients have facial dysmorphism | rel=r_associated | relid=0 | w=30
  2714. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:80% cases new mutations
    n1=en:incidence of 1 in 250,000 births | n2=en:80% cases new mutations | rel=r_associated | relid=0 | w=30
  2715. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:a milder form has also been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:a milder form has also been reported | rel=r_associated | relid=0 | w=30
  2716. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:a subset of patients have additional features, including mental retardation and hypogonadism associated with larger deletions at xp22.3
    n1=en:incidence of 1 in 250,000 births | 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=30
  2717. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:abnormal sensitivity to therapeutic radiation
    n1=en:incidence of 1 in 250,000 births | n2=en:abnormal sensitivity to therapeutic radiation | rel=r_associated | relid=0 | w=30
  2718. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:accounts for 5 to 7% of all cases of congenital adrenal hyperplasia
    n1=en:incidence of 1 in 250,000 births | n2=en:accounts for 5 to 7% of all cases of congenital adrenal hyperplasia | rel=r_associated | relid=0 | w=30
  2719. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:acetazolamide may benefit attacks of vertigo
    n1=en:incidence of 1 in 250,000 births | n2=en:acetazolamide may benefit attacks of vertigo | rel=r_associated | relid=0 | w=30
  2720. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:acral hemorrhagic variant
    n1=en:incidence of 1 in 250,000 births | n2=en:acral hemorrhagic variant | rel=r_associated | relid=0 | w=30
  2721. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:adult form onset has after 20 years
    n1=en:incidence of 1 in 250,000 births | n2=en:adult form onset has after 20 years | rel=r_associated | relid=0 | w=30
  2722. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:adult onset (37 to 57 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (37 to 57 years) | rel=r_associated | relid=0 | w=30
  2723. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:adult onset (mid-forties)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (mid-forties) | rel=r_associated | relid=0 | w=30
  2724. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:adult onset (range 15 to 53 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (range 15 to 53 years) | rel=r_associated | relid=0 | w=30
  2725. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:affected females are infertile
    n1=en:incidence of 1 in 250,000 births | n2=en:affected females are infertile | rel=r_associated | relid=0 | w=30
  2726. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:affected males show onset of hematuria in first year of life
    n1=en:incidence of 1 in 250,000 births | n2=en:affected males show onset of hematuria in first year of life | rel=r_associated | relid=0 | w=30
  2727. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:affects up to 10% of the population
    n1=en:incidence of 1 in 250,000 births | n2=en:affects up to 10% of the population | rel=r_associated | relid=0 | w=30
  2728. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:age at diagnosis 36 +/- 20 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age at diagnosis 36 +/- 20 years | rel=r_associated | relid=0 | w=30
  2729. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:age at menarche:time:point in time:^patient:quantitative
    n1=en:incidence of 1 in 250,000 births | n2=en:age at menarche:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=30
  2730. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:age at onset 14 to 44 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age at onset 14 to 44 years | rel=r_associated | relid=0 | w=30
  2731. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:age of onset 17 to 68 years (mean 39)
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset 17 to 68 years (mean 39) | rel=r_associated | relid=0 | w=30
  2732. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:age of onset earlier in familial cases than in sporadic cases
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset earlier in familial cases than in sporadic cases | rel=r_associated | relid=0 | w=30
  2733. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:alcohol may alleviate symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:alcohol may alleviate symptoms | rel=r_associated | relid=0 | w=30
  2734. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:all cases are de novo
    n1=en:incidence of 1 in 250,000 births | n2=en:all cases are de novo | rel=r_associated | relid=0 | w=30
  2735. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:all cases occur in old order amish, lancaster county, pennsylvania
    n1=en:incidence of 1 in 250,000 births | n2=en:all cases occur in old order amish, lancaster county, pennsylvania | rel=r_associated | relid=0 | w=30
  2736. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:all features are unilateral
    n1=en:incidence of 1 in 250,000 births | n2=en:all features are unilateral | rel=r_associated | relid=0 | w=30
  2737. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:all reported cases have occurred de novo
    n1=en:incidence of 1 in 250,000 births | n2=en:all reported cases have occurred de novo | rel=r_associated | relid=0 | w=30
  2738. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:allelic disorder to autosomal dominant spg13 (605280)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to autosomal dominant spg13 (605280) | rel=r_associated | relid=0 | w=30
  2739. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:allelic disorder to benign hereditary chorea (118700), which is less severe
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to benign hereditary chorea (118700), which is less severe | rel=r_associated | relid=0 | w=30
  2740. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:allelic disorder to brachydactyly type b (113000)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to brachydactyly type b (113000) | rel=r_associated | relid=0 | w=30
  2741. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:allelic disorder to branchiootic syndrome (bos1, 602588) and otofaciocervical syndrome (166780)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to branchiootic syndrome (bos1, 602588) and otofaciocervical syndrome (166780) | rel=r_associated | relid=0 | w=30
  2742. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:allelic disorder to child syndrome (308050)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to child syndrome (308050) | rel=r_associated | relid=0 | w=30
  2743. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:allelic disorder to distal spinal muscular atrophy type v (dsmav, 600794), but distinguished by more severe distal sensory involvement
    n1=en:incidence of 1 in 250,000 births | 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=30
  2744. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, 205100)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, 205100) | rel=r_associated | relid=0 | w=30
  2745. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, 607801)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, 607801) | rel=r_associated | relid=0 | w=30
  2746. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:allelic disorder to schindler disease (609241)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to schindler disease (609241) | rel=r_associated | relid=0 | w=30
  2747. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:allelic disorder to spastic paraplegia-3 (spg3, 182600)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to spastic paraplegia-3 (spg3, 182600) | rel=r_associated | relid=0 | w=30
  2748. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:allelic disorder to usher syndrome type 1f (602083)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to usher syndrome type 1f (602083) | rel=r_associated | relid=0 | w=30
  2749. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:allelic to acrokeratosis verruciformis (101900)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to acrokeratosis verruciformis (101900) | rel=r_associated | relid=0 | w=30
  2750. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:allelic to bardet-biedl syndrome 6 (209900)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to bardet-biedl syndrome 6 (209900) | rel=r_associated | relid=0 | w=30
  2751. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:allelic to deafness, neurosensory, autosomal recessive 18 (602092)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to deafness, neurosensory, autosomal recessive 18 (602092) | rel=r_associated | relid=0 | w=30
  2752. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:allelic to dentinogenesis imperfecta 1 (125490)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to dentinogenesis imperfecta 1 (125490) | rel=r_associated | relid=0 | w=30
  2753. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:allelic to enhanced s-cone syndrome (268100)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to enhanced s-cone syndrome (268100) | rel=r_associated | relid=0 | w=30
  2754. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, 228930)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, 228930) | rel=r_associated | relid=0 | w=30
  2755. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:allelic to grebe syndrome (200700), brachydactyly type c (113100), and acromesomelic dysplasia, hunter-thompson type (201250)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to grebe syndrome (200700), brachydactyly type c (113100), and acromesomelic dysplasia, hunter-thompson type (201250) | rel=r_associated | relid=0 | w=30
  2756. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:allelic to hawkinsinuria (140350)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to hawkinsinuria (140350) | rel=r_associated | relid=0 | w=30
  2757. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:allelic to hereditary multiple leiomyoma of skin (see 150800) and hereditary leiomyomatosis and renal cell cancer (150800)
    n1=en:incidence of 1 in 250,000 births | 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=30
  2758. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:allelic to hydropic and prenatally lethal chondrodystrophy (215140)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to hydropic and prenatally lethal chondrodystrophy (215140) | rel=r_associated | relid=0 | w=30
  2759. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:allelic to hyperimmunoglobulinemia d syndrome (hids, 260920)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to hyperimmunoglobulinemia d syndrome (hids, 260920) | rel=r_associated | relid=0 | w=30
  2760. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410) | rel=r_associated | relid=0 | w=30
  2761. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:allelic to metaphyseal dysplasia without hypotrichosis (250460)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to metaphyseal dysplasia without hypotrichosis (250460) | rel=r_associated | relid=0 | w=30
  2762. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:allelic to mucopolysaccharidosis ivb
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to mucopolysaccharidosis ivb | rel=r_associated | relid=0 | w=30
  2763. en:incidence of 1 in 250,000 births -- 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:incidence of 1 in 250,000 births | 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
  2764. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:allelic to retinitis punctata albescens (136880), fundus albipunctatus (136880), autosomal recessive retinitis pigmentosa (268000), newfoundland rod-cone dystrophy (607476)
    n1=en:incidence of 1 in 250,000 births | 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=30
  2765. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:allelic to trichorhinophalangeal syndrome, type iii (trps3, 190351)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to trichorhinophalangeal syndrome, type iii (trps3, 190351) | rel=r_associated | relid=0 | w=30
  2766. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:ambulation is preserved
    n1=en:incidence of 1 in 250,000 births | n2=en:ambulation is preserved | rel=r_associated | relid=0 | w=30
  2767. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:anemia is responsive to corticosteroid treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:anemia is responsive to corticosteroid treatment | rel=r_associated | relid=0 | w=30
  2768. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:aortic dissection may occur in second decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:aortic dissection may occur in second decade of life | rel=r_associated | relid=0 | w=30
  2769. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:approximately 40% of cases are inherited or new germline mutations
    n1=en:incidence of 1 in 250,000 births | n2=en:approximately 40% of cases are inherited or new germline mutations | rel=r_associated | relid=0 | w=30
  2770. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:approximately half of cases are due to de novo deletions
    n1=en:incidence of 1 in 250,000 births | n2=en:approximately half of cases are due to de novo deletions | rel=r_associated | relid=0 | w=30
  2771. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:approximately half of patients need ambulatory support after the fifth decade
    n1=en:incidence of 1 in 250,000 births | n2=en:approximately half of patients need ambulatory support after the fifth decade | rel=r_associated | relid=0 | w=30
  2772. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia
    n1=en:incidence of 1 in 250,000 births | n2=en:aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia | rel=r_associated | relid=0 | w=30
  2773. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:associated with deletion at chromosome 2q37
    n1=en:incidence of 1 in 250,000 births | n2=en:associated with deletion at chromosome 2q37 | rel=r_associated | relid=0 | w=30
  2774. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:associated with hemodialysis
    n1=en:incidence of 1 in 250,000 births | n2=en:associated with hemodialysis | rel=r_associated | relid=0 | w=30
  2775. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:associated with idiopathic generalized epilepsy (ige, 600669)
    n1=en:incidence of 1 in 250,000 births | n2=en:associated with idiopathic generalized epilepsy (ige, 600669) | rel=r_associated | relid=0 | w=30
  2776. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:associated with myoclonic epilepsy
    n1=en:incidence of 1 in 250,000 births | n2=en:associated with myoclonic epilepsy | rel=r_associated | relid=0 | w=30
  2777. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:association with autoimmune diseases
    n1=en:incidence of 1 in 250,000 births | n2=en:association with autoimmune diseases | rel=r_associated | relid=0 | w=30
  2778. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:asymptomatic if papillary zone is spared
    n1=en:incidence of 1 in 250,000 births | n2=en:asymptomatic if papillary zone is spared | rel=r_associated | relid=0 | w=30
  2779. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:asymptomatic skin lesions begin on neck in third decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:asymptomatic skin lesions begin on neck in third decade of life | rel=r_associated | relid=0 | w=30
  2780. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:attacks often drug-induced
    n1=en:incidence of 1 in 250,000 births | n2=en:attacks often drug-induced | rel=r_associated | relid=0 | w=30
  2781. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:autonomic dysfunction usually precedes obvious neurologic deterioration
    n1=en:incidence of 1 in 250,000 births | n2=en:autonomic dysfunction usually precedes obvious neurologic deterioration | rel=r_associated | relid=0 | w=30
  2782. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:autosomal recessive inheritance has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal recessive inheritance has been reported | rel=r_associated | relid=0 | w=30
  2783. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:autosomal recessive inheritance in one family (see 603342.0010)
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal recessive inheritance in one family (see 603342.0010) | rel=r_associated | relid=0 | w=30
  2784. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:autosomal recessive inheritance with earlier onset has been reported in 3 patients
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal recessive inheritance with earlier onset has been reported in 3 patients | rel=r_associated | relid=0 | w=30
  2785. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:average disease duration of 7 years
    n1=en:incidence of 1 in 250,000 births | n2=en:average disease duration of 7 years | rel=r_associated | relid=0 | w=30
  2786. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:based on 1 uruguayan family (last curated april 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on 1 uruguayan family (last curated april 2014) | rel=r_associated | relid=0 | w=30
  2787. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:based on one report of brother and sister
    n1=en:incidence of 1 in 250,000 births | n2=en:based on one report of brother and sister | rel=r_associated | relid=0 | w=30
  2788. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:based on report of 2 siblings and 1 patient (last curated december 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on report of 2 siblings and 1 patient (last curated december 2014) | rel=r_associated | relid=0 | w=30
  2789. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:behavioral problems including stubbornness and rage
    n1=en:incidence of 1 in 250,000 births | n2=en:behavioral problems including stubbornness and rage | rel=r_associated | relid=0 | w=30
  2790. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:blistering becomes confined to the palms and soles with age
    n1=en:incidence of 1 in 250,000 births | n2=en:blistering becomes confined to the palms and soles with age | rel=r_associated | relid=0 | w=30
  2791. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:broad-based gait
    n1=en:incidence of 1 in 250,000 births | n2=en:broad-based gait | rel=r_associated | relid=0 | w=30
  2792. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:candidiasis is usually the first symptom
    n1=en:incidence of 1 in 250,000 births | n2=en:candidiasis is usually the first symptom | rel=r_associated | relid=0 | w=30
  2793. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:cardiomyopathy may develop later in the disease
    n1=en:incidence of 1 in 250,000 births | n2=en:cardiomyopathy may develop later in the disease | rel=r_associated | relid=0 | w=30
  2794. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome
    n1=en:incidence of 1 in 250,000 births | n2=en:carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome | rel=r_associated | relid=0 | w=30
  2795. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:caused by 55-200 expanded trinucleotide repeats in the fmr1 gene (309550) referred to as a 'premutation'
    n1=en:incidence of 1 in 250,000 births | 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=30
  2796. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:caused by inborn error in bile acid synthesis
    n1=en:incidence of 1 in 250,000 births | n2=en:caused by inborn error in bile acid synthesis | rel=r_associated | relid=0 | w=30
  2797. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:charcot-marie-tooth disease type 2l (cmt2l, 608673) is an allelic disorder with an overlapping phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:charcot-marie-tooth disease type 2l (cmt2l, 608673) is an allelic disorder with an overlapping phenotype | rel=r_associated | relid=0 | w=30
  2798. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:charge acronym (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness, extremity abnormalities)
    n1=en:incidence of 1 in 250,000 births | 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=30
  2799. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product
    n1=en:incidence of 1 in 250,000 births | n2=en:chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product | rel=r_associated | relid=0 | w=30
  2800. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:chronic, relapsing condition
    n1=en:incidence of 1 in 250,000 births | n2=en:chronic, relapsing condition | rel=r_associated | relid=0 | w=30
  2801. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity
    n1=en:incidence of 1 in 250,000 births | n2=en:classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity | rel=r_associated | relid=0 | w=30
  2802. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:clinical and biochemical abnormalities disappear with age
    n1=en:incidence of 1 in 250,000 births | n2=en:clinical and biochemical abnormalities disappear with age | rel=r_associated | relid=0 | w=30
  2803. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:clinical and biochemical symptoms improved with oral administration of creatine monohydrate
    n1=en:incidence of 1 in 250,000 births | n2=en:clinical and biochemical symptoms improved with oral administration of creatine monohydrate | rel=r_associated | relid=0 | w=30
  2804. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:clinical overlap with dejerine-sottas syndrome (dss, 145900)
    n1=en:incidence of 1 in 250,000 births | n2=en:clinical overlap with dejerine-sottas syndrome (dss, 145900) | rel=r_associated | relid=0 | w=30
  2805. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:clinical overlap with distal hereditary motor neuropathy type vii (dhmn vii, 158580)
    n1=en:incidence of 1 in 250,000 births | n2=en:clinical overlap with distal hereditary motor neuropathy type vii (dhmn vii, 158580) | rel=r_associated | relid=0 | w=30
  2806. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:clinical severity varies
    n1=en:incidence of 1 in 250,000 births | n2=en:clinical severity varies | rel=r_associated | relid=0 | w=30
  2807. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:clonazepam and diazepam may be effective in preventing or lessening severity
    n1=en:incidence of 1 in 250,000 births | n2=en:clonazepam and diazepam may be effective in preventing or lessening severity | rel=r_associated | relid=0 | w=30
  2808. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:coloboma is associated with larger microdeletion (490kb) of 11q13
    n1=en:incidence of 1 in 250,000 births | n2=en:coloboma is associated with larger microdeletion (490kb) of 11q13 | rel=r_associated | relid=0 | w=30
  2809. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:common in japan and other asian populations
    n1=en:incidence of 1 in 250,000 births | n2=en:common in japan and other asian populations | rel=r_associated | relid=0 | w=30
  2810. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:compound heterozygosity common
    n1=en:incidence of 1 in 250,000 births | n2=en:compound heterozygosity common | rel=r_associated | relid=0 | w=30
  2811. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:considered to be a variant of gaucher disease type iii (231000)
    n1=en:incidence of 1 in 250,000 births | n2=en:considered to be a variant of gaucher disease type iii (231000) | rel=r_associated | relid=0 | w=30
  2812. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:contiguous gene syndrome
    n1=en:incidence of 1 in 250,000 births | n2=en:contiguous gene syndrome | rel=r_associated | relid=0 | w=30
  2813. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:coronary artery disease or myocardial infarction in fifth or sixth decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:coronary artery disease or myocardial infarction in fifth or sixth decade of life | rel=r_associated | relid=0 | w=30
  2814. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:death due to rapidly progressive pulmonary fibrosis in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:death due to rapidly progressive pulmonary fibrosis in infancy | rel=r_associated | relid=0 | w=30
  2815. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:death from pneumonia
    n1=en:incidence of 1 in 250,000 births | n2=en:death from pneumonia | rel=r_associated | relid=0 | w=30
  2816. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:death in childhood may occur
    n1=en:incidence of 1 in 250,000 births | n2=en:death in childhood may occur | rel=r_associated | relid=0 | w=30
  2817. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:death in fourth to fifth decade
    n1=en:incidence of 1 in 250,000 births | n2=en:death in fourth to fifth decade | rel=r_associated | relid=0 | w=30
  2818. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:death in infancy secondary to pulmonary insufficiency
    n1=en:incidence of 1 in 250,000 births | n2=en:death in infancy secondary to pulmonary insufficiency | rel=r_associated | relid=0 | w=30
  2819. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:death in infancy without bone marrow transplantation
    n1=en:incidence of 1 in 250,000 births | n2=en:death in infancy without bone marrow transplantation | rel=r_associated | relid=0 | w=30
  2820. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:death in neonatal period
    n1=en:incidence of 1 in 250,000 births | n2=en:death in neonatal period | rel=r_associated | relid=0 | w=30
  2821. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:death in utero (30%)
    n1=en:incidence of 1 in 250,000 births | n2=en:death in utero (30%) | rel=r_associated | relid=0 | w=30
  2822. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:death may occur in late childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:death may occur in late childhood | rel=r_associated | relid=0 | w=30
  2823. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:death usually associated with cardiogenic shock preceded by arrhythmia
    n1=en:incidence of 1 in 250,000 births | n2=en:death usually associated with cardiogenic shock preceded by arrhythmia | rel=r_associated | relid=0 | w=30
  2824. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:death usually occurs in early infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:death usually occurs in early infancy | rel=r_associated | relid=0 | w=30
  2825. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:decrease in seizure frequency in middle age
    n1=en:incidence of 1 in 250,000 births | n2=en:decrease in seizure frequency in middle age | rel=r_associated | relid=0 | w=30
  2826. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:deleted region contains 4 genes that are not imprinted, tubgcp2 (608147), nipa1 (608145), nipa2 (608146), and cyfip1 (606322)
    n1=en:incidence of 1 in 250,000 births | 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=30
  2827. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:diagnosis made if 3/7 defects are present
    n1=en:incidence of 1 in 250,000 births | n2=en:diagnosis made if 3/7 defects are present | rel=r_associated | relid=0 | w=30
  2828. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:diagnosis requires 3 major features (a positive family history is also considered a major feature) and at least 3 minor features
    n1=en:incidence of 1 in 250,000 births | 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=30
  2829. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:diarrhea persists even with vigorous nursing
    n1=en:incidence of 1 in 250,000 births | n2=en:diarrhea persists even with vigorous nursing | rel=r_associated | relid=0 | w=30
  2830. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:diarrhea worsens in parallel with increases in severity of skin disease
    n1=en:incidence of 1 in 250,000 births | n2=en:diarrhea worsens in parallel with increases in severity of skin disease | rel=r_associated | relid=0 | w=30
  2831. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:die at birth or shortly after birth
    n1=en:incidence of 1 in 250,000 births | n2=en:die at birth or shortly after birth | rel=r_associated | relid=0 | w=30
  2832. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:disease complicated by recurrent sepsis in some patients
    n1=en:incidence of 1 in 250,000 births | n2=en:disease complicated by recurrent sepsis in some patients | rel=r_associated | relid=0 | w=30
  2833. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:disorder may progress to involve a larger body area
    n1=en:incidence of 1 in 250,000 births | n2=en:disorder may progress to involve a larger body area | rel=r_associated | relid=0 | w=30
  2834. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:distinct disorder from galactosemia (230400)
    n1=en:incidence of 1 in 250,000 births | n2=en:distinct disorder from galactosemia (230400) | rel=r_associated | relid=0 | w=30
  2835. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:distinct disorder from parkinson disease (168600)
    n1=en:incidence of 1 in 250,000 births | n2=en:distinct disorder from parkinson disease (168600) | rel=r_associated | relid=0 | w=30
  2836. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:dystonia and seizures may persist after resolution of episodes
    n1=en:incidence of 1 in 250,000 births | n2=en:dystonia and seizures may persist after resolution of episodes | rel=r_associated | relid=0 | w=30
  2837. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:early childhood onset (before age 5 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:early childhood onset (before age 5 years) | rel=r_associated | relid=0 | w=30
  2838. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:early death without kidney transplant
    n1=en:incidence of 1 in 250,000 births | n2=en:early death without kidney transplant | rel=r_associated | relid=0 | w=30
  2839. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:early diagnosis and proper treatment with folate replacement therapy can avoid neurologic sequelae
    n1=en:incidence of 1 in 250,000 births | n2=en:early diagnosis and proper treatment with folate replacement therapy can avoid neurologic sequelae | rel=r_associated | relid=0 | w=30
  2840. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:empiric risk for a sib of an affected child between 2 and 5%
    n1=en:incidence of 1 in 250,000 births | n2=en:empiric risk for a sib of an affected child between 2 and 5% | rel=r_associated | relid=0 | w=30
  2841. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:end-stage renal failure in first decade
    n1=en:incidence of 1 in 250,000 births | n2=en:end-stage renal failure in first decade | rel=r_associated | relid=0 | w=30
  2842. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:end-stage renal failure in first or second decade
    n1=en:incidence of 1 in 250,000 births | n2=en:end-stage renal failure in first or second decade | rel=r_associated | relid=0 | w=30
  2843. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:endocrinologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
    n1=en:incidence of 1 in 250,000 births | 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=30
  2844. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy
    n1=en:incidence of 1 in 250,000 births | n2=en:episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy | rel=r_associated | relid=0 | w=30
  2845. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:episodic metabolic decompensation usually associated with illness
    n1=en:incidence of 1 in 250,000 births | n2=en:episodic metabolic decompensation usually associated with illness | rel=r_associated | relid=0 | w=30
  2846. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:estimated carrier frequency 1/100
    n1=en:incidence of 1 in 250,000 births | n2=en:estimated carrier frequency 1/100 | rel=r_associated | relid=0 | w=30
  2847. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:estimated frequency of 1 in 40,000 live births
    n1=en:incidence of 1 in 250,000 births | n2=en:estimated frequency of 1 in 40,000 live births | rel=r_associated | relid=0 | w=30
  2848. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:estimated incidence 1/20,000 - 1/40,000
    n1=en:incidence of 1 in 250,000 births | n2=en:estimated incidence 1/20,000 - 1/40,000 | rel=r_associated | relid=0 | w=30
  2849. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:evidence of systemic iron overload seen in 1 family
    n1=en:incidence of 1 in 250,000 births | n2=en:evidence of systemic iron overload seen in 1 family | rel=r_associated | relid=0 | w=30
  2850. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:extreme clinical heterogeneity
    n1=en:incidence of 1 in 250,000 births | n2=en:extreme clinical heterogeneity | rel=r_associated | relid=0 | w=30
  2851. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:facial dysmorphism is uncommon
    n1=en:incidence of 1 in 250,000 births | n2=en:facial dysmorphism is uncommon | rel=r_associated | relid=0 | w=30
  2852. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:fatal in the neonatal period (in some patients)
    n1=en:incidence of 1 in 250,000 births | n2=en:fatal in the neonatal period (in some patients) | rel=r_associated | relid=0 | w=30
  2853. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:favorable response to 3,4-diaminopyridine
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to 3,4-diaminopyridine | rel=r_associated | relid=0 | w=30
  2854. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:favorable response to l-dopa without side effects
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to l-dopa without side effects | rel=r_associated | relid=0 | w=30
  2855. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:features are variable
    n1=en:incidence of 1 in 250,000 births | n2=en:features are variable | rel=r_associated | relid=0 | w=30
  2856. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580)
    n1=en:incidence of 1 in 250,000 births | n2=en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580) | rel=r_associated | relid=0 | w=30
  2857. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients)
    n1=en:incidence of 1 in 250,000 births | n2=en:febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients) | rel=r_associated | relid=0 | w=30
  2858. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only
    n1=en:incidence of 1 in 250,000 births | n2=en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only | rel=r_associated | relid=0 | w=30
  2859. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:female carriers may have hearing loss
    n1=en:incidence of 1 in 250,000 births | n2=en:female carriers may have hearing loss | rel=r_associated | relid=0 | w=30
  2860. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:female to male ratio, 1:1
    n1=en:incidence of 1 in 250,000 births | n2=en:female to male ratio, 1:1 | rel=r_associated | relid=0 | w=30
  2861. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:fever of unknown origin
    n1=en:incidence of 1 in 250,000 births | n2=en:fever of unknown origin | rel=r_associated | relid=0 | w=30
  2862. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:five patients have been reported (as of 8/2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:five patients have been reported (as of 8/2011) | rel=r_associated | relid=0 | w=30
  2863. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:five unrelated patients have been reported (as of december 2009)
    n1=en:incidence of 1 in 250,000 births | n2=en:five unrelated patients have been reported (as of december 2009) | rel=r_associated | relid=0 | w=30
  2864. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:fluoxetine therapy is effective
    n1=en:incidence of 1 in 250,000 births | n2=en:fluoxetine therapy is effective | rel=r_associated | relid=0 | w=30
  2865. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:focal or segmental onset in cranial-cervical area or upper limbs
    n1=en:incidence of 1 in 250,000 births | n2=en:focal or segmental onset in cranial-cervical area or upper limbs | rel=r_associated | relid=0 | w=30
  2866. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:following fever in infancy, muscular weakness and poor growth
    n1=en:incidence of 1 in 250,000 births | n2=en:following fever in infancy, muscular weakness and poor growth | rel=r_associated | relid=0 | w=30
  2867. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:for autosomal dominant forms of axonal neuropathy, see cmt2a (118210)
    n1=en:incidence of 1 in 250,000 births | n2=en:for autosomal dominant forms of axonal neuropathy, see cmt2a (118210) | rel=r_associated | relid=0 | w=30
  2868. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:founder effect in irish traveler population
    n1=en:incidence of 1 in 250,000 births | n2=en:founder effect in irish traveler population | rel=r_associated | relid=0 | w=30
  2869. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:frequency of episodes ranges from several per week to several per year
    n1=en:incidence of 1 in 250,000 births | n2=en:frequency of episodes ranges from several per week to several per year | rel=r_associated | relid=0 | w=30
  2870. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:full recovery after attacks
    n1=en:incidence of 1 in 250,000 births | n2=en:full recovery after attacks | rel=r_associated | relid=0 | w=30
  2871. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:gait difficulties and beginning of cognitive decline in first decade
    n1=en:incidence of 1 in 250,000 births | n2=en:gait difficulties and beginning of cognitive decline in first decade | rel=r_associated | relid=0 | w=30
  2872. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:generally benign disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:generally benign disorder | rel=r_associated | relid=0 | w=30
  2873. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (ccm2 603284, ccm3 603285)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (ccm2 603284, ccm3 603285) | rel=r_associated | relid=0 | w=30
  2874. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see 259700)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see 259700) | rel=r_associated | relid=0 | w=30
  2875. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see bfic2, 605751)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see bfic2, 605751) | rel=r_associated | relid=0 | w=30
  2876. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see bscl1, 608594)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see bscl1, 608594) | rel=r_associated | relid=0 | w=30
  2877. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see rls2, 608831)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see rls2, 608831) | rel=r_associated | relid=0 | w=30
  2878. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity, see bos2 (120502) and bos3 (608389)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity, see bos2 (120502) and bos3 (608389) | rel=r_associated | relid=0 | w=30
  2879. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity, see ppnad1 (610489)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity, see ppnad1 (610489) | rel=r_associated | relid=0 | w=30
  2880. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:good response to clonazepam
    n1=en:incidence of 1 in 250,000 births | n2=en:good response to clonazepam | rel=r_associated | relid=0 | w=30
  2881. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:good response to l-dopa initially
    n1=en:incidence of 1 in 250,000 births | n2=en:good response to l-dopa initially | rel=r_associated | relid=0 | w=30
  2882. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:gradual progression of hearing loss
    n1=en:incidence of 1 in 250,000 births | n2=en:gradual progression of hearing loss | rel=r_associated | relid=0 | w=30
  2883. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:greater expression in females
    n1=en:incidence of 1 in 250,000 births | n2=en:greater expression in females | rel=r_associated | relid=0 | w=30
  2884. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:hair tends to straighten by 2nd-3rd decade
    n1=en:incidence of 1 in 250,000 births | n2=en:hair tends to straighten by 2nd-3rd decade | rel=r_associated | relid=0 | w=30
  2885. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:half (50%) of affected patients have a recurrent episode with worse outcome
    n1=en:incidence of 1 in 250,000 births | n2=en:half (50%) of affected patients have a recurrent episode with worse outcome | rel=r_associated | relid=0 | w=30
  2886. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:half of cases show retarded head circumference equal to height retardation
    n1=en:incidence of 1 in 250,000 births | n2=en:half of cases show retarded head circumference equal to height retardation | rel=r_associated | relid=0 | w=30
  2887. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:headache duration 4-72 hours
    n1=en:incidence of 1 in 250,000 births | n2=en:headache duration 4-72 hours | rel=r_associated | relid=0 | w=30
  2888. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:hepatic failure develops in first months of life
    n1=en:incidence of 1 in 250,000 births | n2=en:hepatic failure develops in first months of life | rel=r_associated | relid=0 | w=30
  2889. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:hernia occurs in 22% of adults
    n1=en:incidence of 1 in 250,000 births | n2=en:hernia occurs in 22% of adults | rel=r_associated | relid=0 | w=30
  2890. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment | rel=r_associated | relid=0 | w=30
  2891. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:heterozygous mutation carriers may show mild symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygous mutation carriers may show mild symptoms | rel=r_associated | relid=0 | w=30
  2892. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:hhs is a more severe variant, often resulting in death in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:hhs is a more severe variant, often resulting in death in childhood | rel=r_associated | relid=0 | w=30
  2893. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:high frequency seizures
    n1=en:incidence of 1 in 250,000 births | n2=en:high frequency seizures | rel=r_associated | relid=0 | w=30
  2894. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:high incidence among old order amish
    n1=en:incidence of 1 in 250,000 births | n2=en:high incidence among old order amish | rel=r_associated | relid=0 | w=30
  2895. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:high prevalence in the east asian population
    n1=en:incidence of 1 in 250,000 births | n2=en:high prevalence in the east asian population | rel=r_associated | relid=0 | w=30
  2896. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:highly variable phenotype and severity
    n1=en:incidence of 1 in 250,000 births | n2=en:highly variable phenotype and severity | rel=r_associated | relid=0 | w=30
  2897. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:highly variable phenotype and severity, even within families
    n1=en:incidence of 1 in 250,000 births | n2=en:highly variable phenotype and severity, even within families | rel=r_associated | relid=0 | w=30
  2898. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:hip girdle involvement precedes and is usually greater than shoulder girdle involvement
    n1=en:incidence of 1 in 250,000 births | n2=en:hip girdle involvement precedes and is usually greater than shoulder girdle involvement | rel=r_associated | relid=0 | w=30
  2899. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:hip replacement in early adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:hip replacement in early adulthood | rel=r_associated | relid=0 | w=30
  2900. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:hypogonadism reported in a large swedish kindred
    n1=en:incidence of 1 in 250,000 births | n2=en:hypogonadism reported in a large swedish kindred | rel=r_associated | relid=0 | w=30
  2901. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:hypothyroidism is less severe in individuals with high dietary iodine intake
    n1=en:incidence of 1 in 250,000 births | n2=en:hypothyroidism is less severe in individuals with high dietary iodine intake | rel=r_associated | relid=0 | w=30
  2902. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:immunodeficiency is progressive
    n1=en:incidence of 1 in 250,000 births | n2=en:immunodeficiency is progressive | rel=r_associated | relid=0 | w=30
  2903. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:in adults, may be considered part of a spectrum with hemolytic-uremic syndrome (hus, 235400)
    n1=en:incidence of 1 in 250,000 births | n2=en:in adults, may be considered part of a spectrum with hemolytic-uremic syndrome (hus, 235400) | rel=r_associated | relid=0 | w=30
  2904. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:inborn error of the pyrimidine degradation pathway
    n1=en:incidence of 1 in 250,000 births | n2=en:inborn error of the pyrimidine degradation pathway | rel=r_associated | relid=0 | w=30
  2905. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:incidence 1 in 20,000
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence 1 in 20,000 | rel=r_associated | relid=0 | w=30
  2906. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:incidence 1/100,000 - 1/200,000 live births
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence 1/100,000 - 1/200,000 live births | rel=r_associated | relid=0 | w=30
  2907. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:incidence 5-50 per million (children) and 10-40 per million (adults)
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence 5-50 per million (children) and 10-40 per million (adults) | rel=r_associated | relid=0 | w=30
  2908. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births
    n1=en:incidence of 1 in 250,000 births | 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=30
  2909. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:incidence of 1 in 276,000 in the netherlands
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 276,000 in the netherlands | rel=r_associated | relid=0 | w=30
  2910. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:incidence of 1 in 57,000
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 57,000 | rel=r_associated | relid=0 | w=30
  2911. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:incidence worldwide of 1 in 30,000 to 50,000
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence worldwide of 1 in 30,000 to 50,000 | rel=r_associated | relid=0 | w=30
  2912. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:incomplete penetrance (range 13% to 77% by 50 years of age)
    n1=en:incidence of 1 in 250,000 births | n2=en:incomplete penetrance (range 13% to 77% by 50 years of age) | rel=r_associated | relid=0 | w=30
  2913. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:incomplete penetrance in carrier females
    n1=en:incidence of 1 in 250,000 births | n2=en:incomplete penetrance in carrier females | rel=r_associated | relid=0 | w=30
  2914. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:incomplete penetrance of optic atrophy
    n1=en:incidence of 1 in 250,000 births | n2=en:incomplete penetrance of optic atrophy | rel=r_associated | relid=0 | w=30
  2915. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:increased frequency in the ngobe-bugle tribe in the boca del toro province, on the northwestern caribbean coast of panama
    n1=en:incidence of 1 in 250,000 births | 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=30
  2916. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:increased male to female ratio (7.5:1)
    n1=en:incidence of 1 in 250,000 births | n2=en:increased male to female ratio (7.5:1) | rel=r_associated | relid=0 | w=30
  2917. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:increased male-to-female ratio (3-4 to 1)
    n1=en:incidence of 1 in 250,000 births | n2=en:increased male-to-female ratio (3-4 to 1) | rel=r_associated | relid=0 | w=30
  2918. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:increased recurrence risk with parental translocation
    n1=en:incidence of 1 in 250,000 births | n2=en:increased recurrence risk with parental translocation | rel=r_associated | relid=0 | w=30
  2919. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:increased risk of developing early-onset aggressive cancers
    n1=en:incidence of 1 in 250,000 births | n2=en:increased risk of developing early-onset aggressive cancers | rel=r_associated | relid=0 | w=30
  2920. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:individuals may accumulate more pigment in hair and eyes with age
    n1=en:incidence of 1 in 250,000 births | n2=en:individuals may accumulate more pigment in hair and eyes with age | rel=r_associated | relid=0 | w=30
  2921. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:infantile onset
    n1=en:incidence of 1 in 250,000 births | n2=en:infantile onset | rel=r_associated | relid=0 | w=30
  2922. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:insulin dependent diabetes mellitus:acnc:pt:^patient:ord
    n1=en:incidence of 1 in 250,000 births | n2=en:insulin dependent diabetes mellitus:acnc:pt:^patient:ord | rel=r_associated | relid=0 | w=30
  2923. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:intelligence is normal
    n1=en:incidence of 1 in 250,000 births | n2=en:intelligence is normal | rel=r_associated | relid=0 | w=30
  2924. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:intrafamilial variability in degree of hypotrichosis
    n1=en:incidence of 1 in 250,000 births | n2=en:intrafamilial variability in degree of hypotrichosis | rel=r_associated | relid=0 | w=30
  2925. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:intrafamilial variability in degree of nail involvement
    n1=en:incidence of 1 in 250,000 births | n2=en:intrafamilial variability in degree of nail involvement | rel=r_associated | relid=0 | w=30
  2926. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:intrafamilial variability in severity of hypothyroidism
    n1=en:incidence of 1 in 250,000 births | n2=en:intrafamilial variability in severity of hypothyroidism | rel=r_associated | relid=0 | w=30
  2927. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:juvenile form has onset between 4 and 19 years
    n1=en:incidence of 1 in 250,000 births | n2=en:juvenile form has onset between 4 and 19 years | rel=r_associated | relid=0 | w=30
  2928. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:juvenile myoclonic epilepsy (jme, 606904)
    n1=en:incidence of 1 in 250,000 births | n2=en:juvenile myoclonic epilepsy (jme, 606904) | rel=r_associated | relid=0 | w=30
  2929. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:juvenile rigid early-onset form more often paternally inherited
    n1=en:incidence of 1 in 250,000 births | n2=en:juvenile rigid early-onset form more often paternally inherited | rel=r_associated | relid=0 | w=30
  2930. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:laryngeal edema can result in asphyxiation
    n1=en:incidence of 1 in 250,000 births | n2=en:laryngeal edema can result in asphyxiation | rel=r_associated | relid=0 | w=30
  2931. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:later onset has been reported (third or fourth decades)
    n1=en:incidence of 1 in 250,000 births | n2=en:later onset has been reported (third or fourth decades) | rel=r_associated | relid=0 | w=30
  2932. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:leakage of fluid ('gusher') if the stapes is disturbed
    n1=en:incidence of 1 in 250,000 births | n2=en:leakage of fluid ('gusher') if the stapes is disturbed | rel=r_associated | relid=0 | w=30
  2933. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:lesions apparent at birth
    n1=en:incidence of 1 in 250,000 births | n2=en:lesions apparent at birth | rel=r_associated | relid=0 | w=30
  2934. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:lesions occur mainly on the pinnae of the ears or on the face
    n1=en:incidence of 1 in 250,000 births | n2=en:lesions occur mainly on the pinnae of the ears or on the face | rel=r_associated | relid=0 | w=30
  2935. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:lethal in males
    n1=en:incidence of 1 in 250,000 births | n2=en:lethal in males | rel=r_associated | relid=0 | w=30
  2936. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:levodopa-induced dyskinesias
    n1=en:incidence of 1 in 250,000 births | n2=en:levodopa-induced dyskinesias | rel=r_associated | relid=0 | w=30
  2937. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:loss initially affects mid and high frequencies
    n1=en:incidence of 1 in 250,000 births | n2=en:loss initially affects mid and high frequencies | rel=r_associated | relid=0 | w=30
  2938. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:madelung deformity more frequent and more severe in females
    n1=en:incidence of 1 in 250,000 births | n2=en:madelung deformity more frequent and more severe in females | rel=r_associated | relid=0 | w=30
  2939. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:majority of cases are due to de novo mutation
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of cases are due to de novo mutation | rel=r_associated | relid=0 | w=30
  2940. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:majority of cases occur in brazilian population
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of cases occur in brazilian population | rel=r_associated | relid=0 | w=30
  2941. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:majority of children die before age 2
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of children die before age 2 | rel=r_associated | relid=0 | w=30
  2942. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:male predominance
    n1=en:incidence of 1 in 250,000 births | n2=en:male predominance | rel=r_associated | relid=0 | w=30
  2943. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:males are most severely affected, but females can also be affected
    n1=en:incidence of 1 in 250,000 births | n2=en:males are most severely affected, but females can also be affected | rel=r_associated | relid=0 | w=30
  2944. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:males carry mutations in the somatic mosaic state
    n1=en:incidence of 1 in 250,000 births | n2=en:males carry mutations in the somatic mosaic state | rel=r_associated | relid=0 | w=30
  2945. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:males mores severely affected than females
    n1=en:incidence of 1 in 250,000 births | n2=en:males mores severely affected than females | rel=r_associated | relid=0 | w=30
  2946. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:many patients become wheelchair-bound by second or third decade
    n1=en:incidence of 1 in 250,000 births | n2=en:many patients become wheelchair-bound by second or third decade | rel=r_associated | relid=0 | w=30
  2947. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:marked variability in the deletion size
    n1=en:incidence of 1 in 250,000 births | n2=en:marked variability in the deletion size | rel=r_associated | relid=0 | w=30
  2948. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years)
    n1=en:incidence of 1 in 250,000 births | 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=30
  2949. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:maternal oligohydramnios
    n1=en:incidence of 1 in 250,000 births | n2=en:maternal oligohydramnios | rel=r_associated | relid=0 | w=30
  2950. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:may be due to imprinting defect
    n1=en:incidence of 1 in 250,000 births | n2=en:may be due to imprinting defect | rel=r_associated | relid=0 | w=30
  2951. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:may be same entity as griscelli syndrome type i (214450) caused by mutation in the myosin va gene (160777)
    n1=en:incidence of 1 in 250,000 births | 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=30
  2952. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:mean age at diagnosis 16 years (range 6 to 22)
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at diagnosis 16 years (range 6 to 22) | rel=r_associated | relid=0 | w=30
  2953. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:mean age at onset 22 years (range 7 to 50 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset 22 years (range 7 to 50 years) | rel=r_associated | relid=0 | w=30
  2954. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:mean age at onset 35 years (range 20-60)
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset 35 years (range 20-60) | rel=r_associated | relid=0 | w=30
  2955. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:mean age at onset 48 years (range 38 to 64)
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset 48 years (range 38 to 64) | rel=r_associated | relid=0 | w=30
  2956. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:mean age at onset of bone disease is 40 years (range 23-65)
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset of bone disease is 40 years (range 23-65) | rel=r_associated | relid=0 | w=30
  2957. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:mean age at termination 3 to 4 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at termination 3 to 4 years | rel=r_associated | relid=0 | w=30
  2958. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:mean age of onset 14-24 months
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age of onset 14-24 months | rel=r_associated | relid=0 | w=30
  2959. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:mean age of onset 18 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age of onset 18 years | rel=r_associated | relid=0 | w=30
  2960. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:mean age of onset 30 years (range first to seventh decade)
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age of onset 30 years (range first to seventh decade) | rel=r_associated | relid=0 | w=30
  2961. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:mechanical ventilation may be required
    n1=en:incidence of 1 in 250,000 births | n2=en:mechanical ventilation may be required | rel=r_associated | relid=0 | w=30
  2962. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:median age of diagnosis - 15 years
    n1=en:incidence of 1 in 250,000 births | n2=en:median age of diagnosis - 15 years | rel=r_associated | relid=0 | w=30
  2963. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:microdeletion is approximately 1.5mb in length
    n1=en:incidence of 1 in 250,000 births | n2=en:microdeletion is approximately 1.5mb in length | rel=r_associated | relid=0 | w=30
  2964. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:mild asymmetric regional disease (e.g. 180380.0029)
    n1=en:incidence of 1 in 250,000 births | n2=en:mild asymmetric regional disease (e.g. 180380.0029) | rel=r_associated | relid=0 | w=30
  2965. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:milder disease with a more favorable prognosis than cmd1u (613694) due to psen1 mutations
    n1=en:incidence of 1 in 250,000 births | n2=en:milder disease with a more favorable prognosis than cmd1u (613694) due to psen1 mutations | rel=r_associated | relid=0 | w=30
  2966. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:mode of inheritance is uncertain
    n1=en:incidence of 1 in 250,000 births | n2=en:mode of inheritance is uncertain | rel=r_associated | relid=0 | w=30
  2967. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:most (80 to 90%) of cases result from deletions of the sts gene
    n1=en:incidence of 1 in 250,000 births | n2=en:most (80 to 90%) of cases result from deletions of the sts gene | rel=r_associated | relid=0 | w=30
  2968. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:most cases result from a de novo mutation
    n1=en:incidence of 1 in 250,000 births | n2=en:most cases result from a de novo mutation | rel=r_associated | relid=0 | w=30
  2969. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:most common episodic ataxia syndrome
    n1=en:incidence of 1 in 250,000 births | n2=en:most common episodic ataxia syndrome | rel=r_associated | relid=0 | w=30
  2970. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:most common form of congenital methemoglobinemia
    n1=en:incidence of 1 in 250,000 births | n2=en:most common form of congenital methemoglobinemia | rel=r_associated | relid=0 | w=30
  2971. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:most patients are asymptomatic
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients are asymptomatic | rel=r_associated | relid=0 | w=30
  2972. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:most patients are clinically asymptomatic and show normal development
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients are clinically asymptomatic and show normal development | rel=r_associated | relid=0 | w=30
  2973. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:most patients have recurrent 'flares' of pustular rash with fever, although some develop chronic erythematous plaques without pustules
    n1=en:incidence of 1 in 250,000 births | 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=30
  2974. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:most remit by 2 months
    n1=en:incidence of 1 in 250,000 births | n2=en:most remit by 2 months | rel=r_associated | relid=0 | w=30
  2975. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:most severe form of gaucher disease
    n1=en:incidence of 1 in 250,000 births | n2=en:most severe form of gaucher disease | rel=r_associated | relid=0 | w=30
  2976. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:motor developmental delay
    n1=en:incidence of 1 in 250,000 births | n2=en:motor developmental delay | rel=r_associated | relid=0 | w=30
  2977. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:mousy odor
    n1=en:incidence of 1 in 250,000 births | n2=en:mousy odor | rel=r_associated | relid=0 | w=30
  2978. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:muscle weakness increases with age
    n1=en:incidence of 1 in 250,000 births | n2=en:muscle weakness increases with age | rel=r_associated | relid=0 | w=30
  2979. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:mut-0 denotes individuals with cultured fibroblast mutase activity that is undetectable secondary to no functional mutase
    n1=en:incidence of 1 in 250,000 births | 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=30
  2980. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:nails may be intermittently involved
    n1=en:incidence of 1 in 250,000 births | n2=en:nails may be intermittently involved | rel=r_associated | relid=0 | w=30
  2981. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:nails, palms, and soles are spared in some patients
    n1=en:incidence of 1 in 250,000 births | n2=en:nails, palms, and soles are spared in some patients | rel=r_associated | relid=0 | w=30
  2982. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:natural aversion to carbohydrates
    n1=en:incidence of 1 in 250,000 births | n2=en:natural aversion to carbohydrates | rel=r_associated | relid=0 | w=30
  2983. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:neurologic signs may not be present
    n1=en:incidence of 1 in 250,000 births | n2=en:neurologic signs may not be present | rel=r_associated | relid=0 | w=30
  2984. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:no abnormalities of hair, teeth, or bones
    n1=en:incidence of 1 in 250,000 births | n2=en:no abnormalities of hair, teeth, or bones | rel=r_associated | relid=0 | w=30
  2985. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:no cardiac or immune defects in patients from the 2 reported families
    n1=en:incidence of 1 in 250,000 births | n2=en:no cardiac or immune defects in patients from the 2 reported families | rel=r_associated | relid=0 | w=30
  2986. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:no neurologic sequelae
    n1=en:incidence of 1 in 250,000 births | n2=en:no neurologic sequelae | rel=r_associated | relid=0 | w=30
  2987. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:no peripheral signs of hypothyroidism
    n1=en:incidence of 1 in 250,000 births | n2=en:no peripheral signs of hypothyroidism | rel=r_associated | relid=0 | w=30
  2988. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:no phenotypic manifestations
    n1=en:incidence of 1 in 250,000 births | n2=en:no phenotypic manifestations | rel=r_associated | relid=0 | w=30
  2989. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:no situs inversus
    n1=en:incidence of 1 in 250,000 births | n2=en:no situs inversus | rel=r_associated | relid=0 | w=30
  2990. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:non-tender
    n1=en:incidence of 1 in 250,000 births | n2=en:non-tender | rel=r_associated | relid=0 | w=30
  2991. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> 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:incidence of 1 in 250,000 births | 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=30
  2992. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:nontruncating (missense) lamb2 mutations may display variable phenotypes ranging from a milder variant of pierson syndrome to isolated congenital nephrotic syndrome
    n1=en:incidence of 1 in 250,000 births | 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=30
  2993. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:normal in neonatal period
    n1=en:incidence of 1 in 250,000 births | n2=en:normal in neonatal period | rel=r_associated | relid=0 | w=30
  2994. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:not all patients have facial dysmorphism
    n1=en:incidence of 1 in 250,000 births | n2=en:not all patients have facial dysmorphism | rel=r_associated | relid=0 | w=30
  2995. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:nystagmus may disappear by mid-childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:nystagmus may disappear by mid-childhood | rel=r_associated | relid=0 | w=30
  2996. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous)
    n1=en:incidence of 1 in 250,000 births | n2=en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous) | rel=r_associated | relid=0 | w=30
  2997. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:occurs in 2-5 per 10,000 individuals
    n1=en:incidence of 1 in 250,000 births | n2=en:occurs in 2-5 per 10,000 individuals | rel=r_associated | relid=0 | w=30
  2998. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:oeis is an acronym for omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects
    n1=en:incidence of 1 in 250,000 births | n2=en:oeis is an acronym for omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects | rel=r_associated | relid=0 | w=30
  2999. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:often refractory to medical therapy
    n1=en:incidence of 1 in 250,000 births | n2=en:often refractory to medical therapy | rel=r_associated | relid=0 | w=30
  3000. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:old order amish, african american, and french patients have been described
    n1=en:incidence of 1 in 250,000 births | n2=en:old order amish, african american, and french patients have been described | rel=r_associated | relid=0 | w=30
  3001. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:one consanguineous pakistani family has been described (last curated march 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:one consanguineous pakistani family has been described (last curated march 2015) | rel=r_associated | relid=0 | w=30
  3002. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:one consanguineous saudi family has been reported (last curated october 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one consanguineous saudi family has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=30
  3003. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:one family (4 affected members) has been reported (last curated july 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family (4 affected members) has been reported (last curated july 2012) | rel=r_associated | relid=0 | w=30
  3004. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:one family has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported | rel=r_associated | relid=0 | w=30
  3005. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:one family has been reported (as of 4/2010)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (as of 4/2010) | rel=r_associated | relid=0 | w=30
  3006. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:one family has been reported (last curated august 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (last curated august 2013) | rel=r_associated | relid=0 | w=30
  3007. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:one family has been reported (last curated january 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (last curated january 2013) | rel=r_associated | relid=0 | w=30
  3008. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:one family has been reported (last curated march 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (last curated march 2014) | rel=r_associated | relid=0 | w=30
  3009. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:one family has been reported (last curated october 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (last curated october 2013) | rel=r_associated | relid=0 | w=30
  3010. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:one family reported (last curated july 2008)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family reported (last curated july 2008) | rel=r_associated | relid=0 | w=30
  3011. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:one family reported (last curated november 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family reported (last curated november 2013) | rel=r_associated | relid=0 | w=30
  3012. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:one family with 2 sisters have been reported (as of march 2010)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family with 2 sisters have been reported (as of march 2010) | rel=r_associated | relid=0 | w=30
  3013. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:one family with 4 affected sibs has been reported (as of april 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family with 4 affected sibs has been reported (as of april 2012) | rel=r_associated | relid=0 | w=30
  3014. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:one family with 5 affected members has been reported (last curated september 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family with 5 affected members has been reported (last curated september 2012) | rel=r_associated | relid=0 | w=30
  3015. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:one family with confirmed cecr1 mutation has been reported (last curated august 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family with confirmed cecr1 mutation has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=30
  3016. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:one pakistani family has been reported (last curated september 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one pakistani family has been reported (last curated september 2013) | rel=r_associated | relid=0 | w=30
  3017. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:one patient has been reported (as of august 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient has been reported (as of august 2011) | rel=r_associated | relid=0 | w=30
  3018. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:one patient has been reported (as of february 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient has been reported (as of february 2012) | rel=r_associated | relid=0 | w=30
  3019. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:one patient has been reported (last curated july 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient has been reported (last curated july 2012) | rel=r_associated | relid=0 | w=30
  3020. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:one patient with a homozygous mutation has been reported (as of 14 june 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient with a homozygous mutation has been reported (as of 14 june 2011) | rel=r_associated | relid=0 | w=30
  3021. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:one such patient has been reported (last curated january 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:one such patient has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=30
  3022. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:only 46,xy individuals are affected
    n1=en:incidence of 1 in 250,000 births | n2=en:only 46,xy individuals are affected | rel=r_associated | relid=0 | w=30
  3023. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset 0-12 hours after birth
    n1=en:incidence of 1 in 250,000 births | n2=en:onset 0-12 hours after birth | rel=r_associated | relid=0 | w=30
  3024. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset about 6 months of age after normal growth and development in the first few months of life
    n1=en:incidence of 1 in 250,000 births | 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=30
  3025. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset after age 40 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset after age 40 years | rel=r_associated | relid=0 | w=30
  3026. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset after third decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset after third decade | rel=r_associated | relid=0 | w=30
  3027. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset at early age, associated with sudden death in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset at early age, associated with sudden death in childhood | rel=r_associated | relid=0 | w=30
  3028. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset before age 3 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset before age 3 years | rel=r_associated | relid=0 | w=30
  3029. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset between 28 and 42 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between 28 and 42 years | rel=r_associated | relid=0 | w=30
  3030. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset between 6 and 12 months of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between 6 and 12 months of age | rel=r_associated | relid=0 | w=30
  3031. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset between 6 and 9 months after normal early development
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between 6 and 9 months after normal early development | rel=r_associated | relid=0 | w=30
  3032. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset between ages 12 and 20 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between ages 12 and 20 years | rel=r_associated | relid=0 | w=30
  3033. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset by 1 year of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset by 1 year of age | rel=r_associated | relid=0 | w=30
  3034. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset first to seventh decade with 30 to 40 year mode
    n1=en:incidence of 1 in 250,000 births | n2=en:onset first to seventh decade with 30 to 40 year mode | rel=r_associated | relid=0 | w=30
  3035. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset in adolescence or adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in adolescence or adulthood | rel=r_associated | relid=0 | w=30
  3036. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset in childhood (range 0.5 to 7 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood (range 0.5 to 7 years) | rel=r_associated | relid=0 | w=30
  3037. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset in childhood (range 1 to 12 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood (range 1 to 12 years) | rel=r_associated | relid=0 | w=30
  3038. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset in childhood or early adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood or early adulthood | rel=r_associated | relid=0 | w=30
  3039. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset in childhood, but most noticeable in mid-teens and early adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood, but most noticeable in mid-teens and early adulthood | rel=r_associated | relid=0 | w=30
  3040. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset in early childhood (4 to 5 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in early childhood (4 to 5 years) | rel=r_associated | relid=0 | w=30
  3041. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset in fifth or sixth decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in fifth or sixth decade | rel=r_associated | relid=0 | w=30
  3042. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset in first 2 decades
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in first 2 decades | rel=r_associated | relid=0 | w=30
  3043. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset in first days of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in first days of life | rel=r_associated | relid=0 | w=30
  3044. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset in first or second decade (range 4 to 13 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in first or second decade (range 4 to 13 years) | rel=r_associated | relid=0 | w=30
  3045. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset in infancy or early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in infancy or early childhood | rel=r_associated | relid=0 | w=30
  3046. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset in infancy or late childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in infancy or late childhood | rel=r_associated | relid=0 | w=30
  3047. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset in lower limbs
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in lower limbs | rel=r_associated | relid=0 | w=30
  3048. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset in second half of the first decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in second half of the first decade of life | rel=r_associated | relid=0 | w=30
  3049. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset in second to third decades (postlingual)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in second to third decades (postlingual) | rel=r_associated | relid=0 | w=30
  3050. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset in teens or young adulthood (range 13 to 45 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in teens or young adulthood (range 13 to 45 years) | rel=r_associated | relid=0 | w=30
  3051. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset in the neonatal period (0-38 days)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in the neonatal period (0-38 days) | rel=r_associated | relid=0 | w=30
  3052. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset in the perinatal period
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in the perinatal period | rel=r_associated | relid=0 | w=30
  3053. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset in utero, infancy, or early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in utero, infancy, or early childhood | rel=r_associated | relid=0 | w=30
  3054. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset is usually in childhood or adolescence (2 to 18 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset is usually in childhood or adolescence (2 to 18 years) | rel=r_associated | relid=0 | w=30
  3055. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset of ataxia in early childhood (range 15 months to 3 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of ataxia in early childhood (range 15 months to 3 years) | rel=r_associated | relid=0 | w=30
  3056. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset of deafness in early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of deafness in early childhood | rel=r_associated | relid=0 | w=30
  3057. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset of diabetes in teenage years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of diabetes in teenage years | rel=r_associated | relid=0 | w=30
  3058. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset of epiphyseal dysplasia and growth retardation in first 2 years of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of epiphyseal dysplasia and growth retardation in first 2 years of life | rel=r_associated | relid=0 | w=30
  3059. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset of essential tremor between 16 and 44 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of essential tremor between 16 and 44 years | rel=r_associated | relid=0 | w=30
  3060. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset of fracture usually when child begins to walk
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of fracture usually when child begins to walk | rel=r_associated | relid=0 | w=30
  3061. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset of hearing loss in late childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of hearing loss in late childhood | rel=r_associated | relid=0 | w=30
  3062. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset of hematologic or cns tumors in the first or second decades of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of hematologic or cns tumors in the first or second decades of life | rel=r_associated | relid=0 | w=30
  3063. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset of hemolytic anemia shortly after birth
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of hemolytic anemia shortly after birth | rel=r_associated | relid=0 | w=30
  3064. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty | rel=r_associated | relid=0 | w=30
  3065. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset of lipodystrophy in early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of lipodystrophy in early childhood | rel=r_associated | relid=0 | w=30
  3066. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset of muscle weakness in early childhood, usually before age 10 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of muscle weakness in early childhood, usually before age 10 years | rel=r_associated | relid=0 | w=30
  3067. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset of neurologic disease in early adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of neurologic disease in early adulthood | rel=r_associated | relid=0 | w=30
  3068. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset of neurologic symptoms often by 30 months
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of neurologic symptoms often by 30 months | rel=r_associated | relid=0 | w=30
  3069. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset of neuromuscular symptoms between 6 months and 1 year of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of neuromuscular symptoms between 6 months and 1 year of age | rel=r_associated | relid=0 | w=30
  3070. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset of optic atrophy in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of optic atrophy in childhood | rel=r_associated | relid=0 | w=30
  3071. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset of progressive spastic paraplegia in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of progressive spastic paraplegia in childhood | rel=r_associated | relid=0 | w=30
  3072. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset of sleepwalking between 4 and 8 years old
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of sleepwalking between 4 and 8 years old | rel=r_associated | relid=0 | w=30
  3073. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset of symptoms 2-6 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of symptoms 2-6 years of age | rel=r_associated | relid=0 | w=30
  3074. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset of symptoms between ages 3-8 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of symptoms between ages 3-8 years of age | rel=r_associated | relid=0 | w=30
  3075. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset of symptoms in fifth decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of symptoms in fifth decade | rel=r_associated | relid=0 | w=30
  3076. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset of thrombocytopenia in early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of thrombocytopenia in early childhood | rel=r_associated | relid=0 | w=30
  3077. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset usually at 2 to 6 months of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually at 2 to 6 months of age | rel=r_associated | relid=0 | w=30
  3078. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset usually in childhood (range 17 months to 39 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in childhood (range 17 months to 39 years) | rel=r_associated | relid=0 | w=30
  3079. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset usually in early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in early childhood | rel=r_associated | relid=0 | w=30
  3080. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset usually in early childhood (but can range from infancy to adolescence)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in early childhood (but can range from infancy to adolescence) | rel=r_associated | relid=0 | w=30
  3081. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset usually in first or second decade (mean 10 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in first or second decade (mean 10 years) | rel=r_associated | relid=0 | w=30
  3082. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset usually in first or second decades
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in first or second decades | rel=r_associated | relid=0 | w=30
  3083. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset usually in mid-teens, average 15 years (range 2 to 20 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in mid-teens, average 15 years (range 2 to 20 years) | rel=r_associated | relid=0 | w=30
  3084. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset usually in the neck
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in the neck | rel=r_associated | relid=0 | w=30
  3085. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:onset within the first decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset within the first decade of life | rel=r_associated | relid=0 | w=30
  3086. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:opportunistic infection
    n1=en:incidence of 1 in 250,000 births | n2=en:opportunistic infection | rel=r_associated | relid=0 | w=30
  3087. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:overlap with obsessive-compulsive disorder (ocd, 164230)
    n1=en:incidence of 1 in 250,000 births | n2=en:overlap with obsessive-compulsive disorder (ocd, 164230) | rel=r_associated | relid=0 | w=30
  3088. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:overlapping clinical spectrum and allelic to masa syndrome (303350)
    n1=en:incidence of 1 in 250,000 births | n2=en:overlapping clinical spectrum and allelic to masa syndrome (303350) | rel=r_associated | relid=0 | w=30
  3089. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:pain is relieved by antiinflammatory medication
    n1=en:incidence of 1 in 250,000 births | n2=en:pain is relieved by antiinflammatory medication | rel=r_associated | relid=0 | w=30
  3090. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:pathogenic alleles contain 75-11,000 repeats
    n1=en:incidence of 1 in 250,000 births | n2=en:pathogenic alleles contain 75-11,000 repeats | rel=r_associated | relid=0 | w=30
  3091. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:patients are severely disabled as adults
    n1=en:incidence of 1 in 250,000 births | n2=en:patients are severely disabled as adults | rel=r_associated | relid=0 | w=30
  3092. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:patients become wheelchair-bound in second decade
    n1=en:incidence of 1 in 250,000 births | n2=en:patients become wheelchair-bound in second decade | rel=r_associated | relid=0 | w=30
  3093. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:patients have increased numbers and earlier onset of neurofibromas compared to patients with neurofibromatosis-1 due to point mutations
    n1=en:incidence of 1 in 250,000 births | 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=30
  3094. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:patients may become totally dependent for all activities of daily living
    n1=en:incidence of 1 in 250,000 births | n2=en:patients may become totally dependent for all activities of daily living | rel=r_associated | relid=0 | w=30
  3095. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:patients may or may not have dysmorphic features
    n1=en:incidence of 1 in 250,000 births | n2=en:patients may or may not have dysmorphic features | rel=r_associated | relid=0 | w=30
  3096. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:patients may show normal development
    n1=en:incidence of 1 in 250,000 births | n2=en:patients may show normal development | rel=r_associated | relid=0 | w=30
  3097. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:patients with adult onset present with psychiatric features
    n1=en:incidence of 1 in 250,000 births | n2=en:patients with adult onset present with psychiatric features | rel=r_associated | relid=0 | w=30
  3098. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:patients with homozygous mutations have a more severe disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:patients with homozygous mutations have a more severe disorder | rel=r_associated | relid=0 | w=30
  3099. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:peak age of onset in second decade
    n1=en:incidence of 1 in 250,000 births | n2=en:peak age of onset in second decade | rel=r_associated | relid=0 | w=30
  3100. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:percentages based on review of 51 published cases (pmid 24891339)
    n1=en:incidence of 1 in 250,000 births | n2=en:percentages based on review of 51 published cases (pmid 24891339) | rel=r_associated | relid=0 | w=30
  3101. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress
    n1=en:incidence of 1 in 250,000 births | n2=en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress | rel=r_associated | relid=0 | w=30
  3102. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:peripheral neuropathy occurs in adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:peripheral neuropathy occurs in adulthood | rel=r_associated | relid=0 | w=30
  3103. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:persistent bleeding after trauma
    n1=en:incidence of 1 in 250,000 births | n2=en:persistent bleeding after trauma | rel=r_associated | relid=0 | w=30
  3104. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:phenotypic overlap with currarino syndrome (176450)
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic overlap with currarino syndrome (176450) | rel=r_associated | relid=0 | w=30
  3105. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:phenotypic overlap with wagr syndrome (194072), frasier syndrome (136680)
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic overlap with wagr syndrome (194072), frasier syndrome (136680) | rel=r_associated | relid=0 | w=30
  3106. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:phenotypic variation (may affect language expression, reception, and/or articulation)
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic variation (may affect language expression, reception, and/or articulation) | rel=r_associated | relid=0 | w=30
  3107. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns
    n1=en:incidence of 1 in 250,000 births | n2=en:physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns | rel=r_associated | relid=0 | w=30
  3108. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:plasma cholinesterase measurement
    n1=en:incidence of 1 in 250,000 births | n2=en:plasma cholinesterase measurement | rel=r_associated | relid=0 | w=30
  3109. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:pneumocytosis carinii infection (12 to 42%)
    n1=en:incidence of 1 in 250,000 births | n2=en:pneumocytosis carinii infection (12 to 42%) | rel=r_associated | relid=0 | w=30
  3110. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:poland syndrome can be associated with moebius syndrome (157900)
    n1=en:incidence of 1 in 250,000 births | n2=en:poland syndrome can be associated with moebius syndrome (157900) | rel=r_associated | relid=0 | w=30
  3111. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:poor gonadotropin response to gonadotropin releasing hormone (gnrh)
    n1=en:incidence of 1 in 250,000 births | n2=en:poor gonadotropin response to gonadotropin releasing hormone (gnrh) | rel=r_associated | relid=0 | w=30
  3112. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:possible autosomal dominant form 165199 and x-linked form, cmtx5 311070
    n1=en:incidence of 1 in 250,000 births | n2=en:possible autosomal dominant form 165199 and x-linked form, cmtx5 311070 | rel=r_associated | relid=0 | w=30
  3113. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:possibly x-linked recessive inheritance
    n1=en:incidence of 1 in 250,000 births | n2=en:possibly x-linked recessive inheritance | rel=r_associated | relid=0 | w=30
  3114. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:precipitating factors - ingestion of wheat gluten, rye, and/or barley
    n1=en:incidence of 1 in 250,000 births | n2=en:precipitating factors - ingestion of wheat gluten, rye, and/or barley | rel=r_associated | relid=0 | w=30
  3115. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:prelingual onset in males
    n1=en:incidence of 1 in 250,000 births | n2=en:prelingual onset in males | rel=r_associated | relid=0 | w=30
  3116. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:prenatal or neonatal onset
    n1=en:incidence of 1 in 250,000 births | n2=en:prenatal or neonatal onset | rel=r_associated | relid=0 | w=30
  3117. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting
    n1=en:incidence of 1 in 250,000 births | n2=en:presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting | rel=r_associated | relid=0 | w=30
  3118. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:prevalence 1 in 8000
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence 1 in 8000 | rel=r_associated | relid=0 | w=30
  3119. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:prevalence in the finnish population of 5.8 per million
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence in the finnish population of 5.8 per million | rel=r_associated | relid=0 | w=30
  3120. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:prevalence of 1 in 150 to 1 in 1,000
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 1 in 150 to 1 in 1,000 | rel=r_associated | relid=0 | w=30
  3121. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:prevalence of sleep terrors about 3% in children
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of sleep terrors about 3% in children | rel=r_associated | relid=0 | w=30
  3122. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:prevalent in newfoundland
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalent in newfoundland | rel=r_associated | relid=0 | w=30
  3123. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:progresses through puberty, then stabilizes
    n1=en:incidence of 1 in 250,000 births | n2=en:progresses through puberty, then stabilizes | rel=r_associated | relid=0 | w=30
  3124. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:progresses to involve upper limbs
    n1=en:incidence of 1 in 250,000 births | n2=en:progresses to involve upper limbs | rel=r_associated | relid=0 | w=30
  3125. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:progression of disease stops at a best-corrected visual acuity of 0.2 (20/100) to 0.1 (20/200)
    n1=en:incidence of 1 in 250,000 births | 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=30
  3126. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:progression of phenotype with age
    n1=en:incidence of 1 in 250,000 births | n2=en:progression of phenotype with age | rel=r_associated | relid=0 | w=30
  3127. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:progressive disease with onset in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:progressive disease with onset in infancy | rel=r_associated | relid=0 | w=30
  3128. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:progressive disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:progressive disorder | rel=r_associated | relid=0 | w=30
  3129. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:protein c deficiency is found in 3-4% of patients with venous thromboembolism
    n1=en:incidence of 1 in 250,000 births | n2=en:protein c deficiency is found in 3-4% of patients with venous thromboembolism | rel=r_associated | relid=0 | w=30
  3130. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:psychomotor delay may already be apparent at onset of seizures
    n1=en:incidence of 1 in 250,000 births | n2=en:psychomotor delay may already be apparent at onset of seizures | rel=r_associated | relid=0 | w=30
  3131. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:rapidly progressive deterioration (in some patients)
    n1=en:incidence of 1 in 250,000 births | n2=en:rapidly progressive deterioration (in some patients) | rel=r_associated | relid=0 | w=30
  3132. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy
    n1=en:incidence of 1 in 250,000 births | n2=en:recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy | rel=r_associated | relid=0 | w=30
  3133. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:reduced fertility
    n1=en:incidence of 1 in 250,000 births | n2=en:reduced fertility | rel=r_associated | relid=0 | w=30
  3134. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:reduced penetrance (75%)
    n1=en:incidence of 1 in 250,000 births | n2=en:reduced penetrance (75%) | rel=r_associated | relid=0 | w=30
  3135. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:relatively mild cutis laxa, associated with severe vascular abnormalities
    n1=en:incidence of 1 in 250,000 births | n2=en:relatively mild cutis laxa, associated with severe vascular abnormalities | rel=r_associated | relid=0 | w=30
  3136. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:response to zinc supplementation
    n1=en:incidence of 1 in 250,000 births | n2=en:response to zinc supplementation | rel=r_associated | relid=0 | w=30
  3137. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:responsive to thiazide diuretics
    n1=en:incidence of 1 in 250,000 births | n2=en:responsive to thiazide diuretics | rel=r_associated | relid=0 | w=30
  3138. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:results in severe motor disability and loss of independent ambulation
    n1=en:incidence of 1 in 250,000 births | n2=en:results in severe motor disability and loss of independent ambulation | rel=r_associated | relid=0 | w=30
  3139. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:risk of sudden death with exertion
    n1=en:incidence of 1 in 250,000 births | n2=en:risk of sudden death with exertion | rel=r_associated | relid=0 | w=30
  3140. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:risk of thromboembolic stroke
    n1=en:incidence of 1 in 250,000 births | n2=en:risk of thromboembolic stroke | rel=r_associated | relid=0 | w=30
  3141. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:scalp hair quality improves during pregnancy
    n1=en:incidence of 1 in 250,000 births | n2=en:scalp hair quality improves during pregnancy | rel=r_associated | relid=0 | w=30
  3142. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:second most common form of usher syndrome type i
    n1=en:incidence of 1 in 250,000 births | n2=en:second most common form of usher syndrome type i | rel=r_associated | relid=0 | w=30
  3143. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:see (277600) for a phenotypically similar autosomal recessive form
    n1=en:incidence of 1 in 250,000 births | n2=en:see (277600) for a phenotypically similar autosomal recessive form | rel=r_associated | relid=0 | w=30
  3144. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:see 123000 for an autosomal dominant form due to mutation in ankh (605145)
    n1=en:incidence of 1 in 250,000 births | n2=en:see 123000 for an autosomal dominant form due to mutation in ankh (605145) | rel=r_associated | relid=0 | w=30
  3145. en:incidence of 1 in 250,000 births -- 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:incidence of 1 in 250,000 births | 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
  3146. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:see also autosomal dominant form (128230)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also autosomal dominant form (128230) | rel=r_associated | relid=0 | w=30
  3147. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:see also autosomal dominant peoa1 (157640)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also autosomal dominant peoa1 (157640) | rel=r_associated | relid=0 | w=30
  3148. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:see also autosomal dominant robinow syndrome (180700)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also autosomal dominant robinow syndrome (180700) | rel=r_associated | relid=0 | w=30
  3149. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:see also distal hmn2a (158590)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also distal hmn2a (158590) | rel=r_associated | relid=0 | w=30
  3150. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:see also familial developmental dysphasia (600117)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also familial developmental dysphasia (600117) | rel=r_associated | relid=0 | w=30
  3151. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:see also hmn2b (608634)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also hmn2b (608634) | rel=r_associated | relid=0 | w=30
  3152. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:see also lethal neonatal (608836) and adult forms (255110)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also lethal neonatal (608836) and adult forms (255110) | rel=r_associated | relid=0 | w=30
  3153. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:see also pseudohypoparathyroidism type ia (103580)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also pseudohypoparathyroidism type ia (103580) | rel=r_associated | relid=0 | w=30
  3154. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:see also severe, early-onset form (300717)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also severe, early-onset form (300717) | rel=r_associated | relid=0 | w=30
  3155. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:see also x-linked (310400) and autosomal dominant (160150) forms
    n1=en:incidence of 1 in 250,000 births | n2=en:see also x-linked (310400) and autosomal dominant (160150) forms | rel=r_associated | relid=0 | w=30
  3156. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:see also x-linked leigh syndrome (312170)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also x-linked leigh syndrome (312170) | rel=r_associated | relid=0 | w=30
  3157. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:see speech-language disorder 1 602081 and familial developmental dysphasia 600117 for similar disorders
    n1=en:incidence of 1 in 250,000 births | n2=en:see speech-language disorder 1 602081 and familial developmental dysphasia 600117 for similar disorders | rel=r_associated | relid=0 | w=30
  3158. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:seizure onset between 3 and 11 years
    n1=en:incidence of 1 in 250,000 births | n2=en:seizure onset between 3 and 11 years | rel=r_associated | relid=0 | w=30
  3159. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:seizures may be precipitated by sleep deprivation, alcohol consumption, or flashing lights
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures may be precipitated by sleep deprivation, alcohol consumption, or flashing lights | rel=r_associated | relid=0 | w=30
  3160. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:seizures may remit in adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures may remit in adolescence | rel=r_associated | relid=0 | w=30
  3161. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:seizures resolve by 4 months of age
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures resolve by 4 months of age | rel=r_associated | relid=0 | w=30
  3162. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:service comment 30:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=30
  3163. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:service comment 39:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=30
  3164. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:service comment 50:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=30
  3165. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:service comment 54:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=30
  3166. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:service comment 59:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=30
  3167. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:service comment 79:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=30
  3168. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:short stepped shuffling gait
    n1=en:incidence of 1 in 250,000 births | n2=en:short stepped shuffling gait | rel=r_associated | relid=0 | w=30
  3169. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:similar phenotype to x-linked hypophosphatemia (xlh, 307800)
    n1=en:incidence of 1 in 250,000 births | n2=en:similar phenotype to x-linked hypophosphatemia (xlh, 307800) | rel=r_associated | relid=0 | w=30
  3170. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:skin lesions exacerbated by heat, exercise (sweating), and sunlight
    n1=en:incidence of 1 in 250,000 births | n2=en:skin lesions exacerbated by heat, exercise (sweating), and sunlight | rel=r_associated | relid=0 | w=30
  3171. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:slow course of functional deterioration compared to severity of mri findings
    n1=en:incidence of 1 in 250,000 births | n2=en:slow course of functional deterioration compared to severity of mri findings | rel=r_associated | relid=0 | w=30
  3172. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:somatic mutations occur in adrenal tumor tissue (601639.0001)
    n1=en:incidence of 1 in 250,000 births | n2=en:somatic mutations occur in adrenal tumor tissue (601639.0001) | rel=r_associated | relid=0 | w=30
  3173. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features
    n1=en:incidence of 1 in 250,000 births | n2=en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features | rel=r_associated | relid=0 | w=30
  3174. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:some carrier females have episodes of significant hyperammonemia in infancy or childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:some carrier females have episodes of significant hyperammonemia in infancy or childhood | rel=r_associated | relid=0 | w=30
  3175. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:some mutations have been found in homozygosity and the phenotype is more severe than that of the heterozygous parents
    n1=en:incidence of 1 in 250,000 births | 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=30
  3176. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:some patients become wheelchair-bound
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients become wheelchair-bound | rel=r_associated | relid=0 | w=30
  3177. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:some patients born in consanguineous families may carry homozygous mutations, but the phenotype does not appear to be more severe
    n1=en:incidence of 1 in 250,000 births | 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=30
  3178. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:some patients do not develop stroke
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients do not develop stroke | rel=r_associated | relid=0 | w=30
  3179. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:some patients do not reach end-stage renal failure
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients do not reach end-stage renal failure | rel=r_associated | relid=0 | w=30
  3180. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:some patients do not show neurologic abnormalities or dysmorphic features
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients do not show neurologic abnormalities or dysmorphic features | rel=r_associated | relid=0 | w=30
  3181. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:some patients have a crouzon-like appearance
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients have a crouzon-like appearance | rel=r_associated | relid=0 | w=30
  3182. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:some patients have asymptomatic hypocalcemia
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients have asymptomatic hypocalcemia | rel=r_associated | relid=0 | w=30
  3183. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:some patients have later onset and more variable phenotype (mngie)
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients have later onset and more variable phenotype (mngie) | rel=r_associated | relid=0 | w=30
  3184. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:some patients have later onset of the disorder as young adults
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients have later onset of the disorder as young adults | rel=r_associated | relid=0 | w=30
  3185. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:some patients may present with adult-onset small fiber neuropathy
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may present with adult-onset small fiber neuropathy | rel=r_associated | relid=0 | w=30
  3186. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:some patients may show a favorable response to oral coenzyme q10 supplementation
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may show a favorable response to oral coenzyme q10 supplementation | rel=r_associated | relid=0 | w=30
  3187. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:some patients never achieve sitting
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients never achieve sitting | rel=r_associated | relid=0 | w=30
  3188. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:some patients never gain ambulation or become wheelchair-bound
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients never gain ambulation or become wheelchair-bound | rel=r_associated | relid=0 | w=30
  3189. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:spontaneous bleeding is rare
    n1=en:incidence of 1 in 250,000 births | n2=en:spontaneous bleeding is rare | rel=r_associated | relid=0 | w=30
  3190. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:spontaneous resolution of seizures by 12 months of age
    n1=en:incidence of 1 in 250,000 births | n2=en:spontaneous resolution of seizures by 12 months of age | rel=r_associated | relid=0 | w=30
  3191. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:spots occur in 95% of patients but can be absent
    n1=en:incidence of 1 in 250,000 births | n2=en:spots occur in 95% of patients but can be absent | rel=r_associated | relid=0 | w=30
  3192. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:stage iii, pseudostationary period (onset 2-10 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:stage iii, pseudostationary period (onset 2-10 years) | rel=r_associated | relid=0 | w=30
  3193. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:subset of patients with sco2 (604272) mutations have cardioencephalomyopathy (604377)
    n1=en:incidence of 1 in 250,000 births | n2=en:subset of patients with sco2 (604272) mutations have cardioencephalomyopathy (604377) | rel=r_associated | relid=0 | w=30
  3194. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:sudden death due to cardiac arrhythmia may occur
    n1=en:incidence of 1 in 250,000 births | n2=en:sudden death due to cardiac arrhythmia may occur | rel=r_associated | relid=0 | w=30
  3195. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:sudden death in affected females occurs in the forties
    n1=en:incidence of 1 in 250,000 births | n2=en:sudden death in affected females occurs in the forties | rel=r_associated | relid=0 | w=30
  3196. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:survival greater than one year rare
    n1=en:incidence of 1 in 250,000 births | n2=en:survival greater than one year rare | rel=r_associated | relid=0 | w=30
  3197. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:surviving infants develop severe nonbullous ichthyosiform erythroderma
    n1=en:incidence of 1 in 250,000 births | n2=en:surviving infants develop severe nonbullous ichthyosiform erythroderma | rel=r_associated | relid=0 | w=30
  3198. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:survivors have mental retardation, spasticity, and adducted thumbs (masa syndrome findings (303350))
    n1=en:incidence of 1 in 250,000 births | n2=en:survivors have mental retardation, spasticity, and adducted thumbs (masa syndrome findings (303350)) | rel=r_associated | relid=0 | w=30
  3199. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:symptoms are often responsive to alcohol
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms are often responsive to alcohol | rel=r_associated | relid=0 | w=30
  3200. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:symptoms improve during the summer
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms improve during the summer | rel=r_associated | relid=0 | w=30
  3201. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see 614972)
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see 614972) | rel=r_associated | relid=0 | w=30
  3202. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:symptoms may decrease after age 30 years
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms may decrease after age 30 years | rel=r_associated | relid=0 | w=30
  3203. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:symptoms precipitated by sudden movement, stress, exertion, fatigue
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms precipitated by sudden movement, stress, exertion, fatigue | rel=r_associated | relid=0 | w=30
  3204. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:symptoms remain focal
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms remain focal | rel=r_associated | relid=0 | w=30
  3205. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:symptoms worsen with fatigue and exercise
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms worsen with fatigue and exercise | rel=r_associated | relid=0 | w=30
  3206. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:syncope
    n1=en:incidence of 1 in 250,000 births | n2=en:syncope | rel=r_associated | relid=0 | w=30
  3207. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> 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:incidence of 1 in 250,000 births | 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=30
  3208. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:systemic granulomatous disease
    n1=en:incidence of 1 in 250,000 births | n2=en:systemic granulomatous disease | rel=r_associated | relid=0 | w=30
  3209. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:this specific disorder has been described in 1 family (ke)
    n1=en:incidence of 1 in 250,000 births | n2=en:this specific disorder has been described in 1 family (ke) | rel=r_associated | relid=0 | w=30
  3210. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:thoracic abnormalities tend to improve with age
    n1=en:incidence of 1 in 250,000 births | n2=en:thoracic abnormalities tend to improve with age | rel=r_associated | relid=0 | w=30
  3211. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:three families have been reported (as of september 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:three families have been reported (as of september 2011) | rel=r_associated | relid=0 | w=30
  3212. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:three patients from 2 families have been reported (last curated december 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:three patients from 2 families have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=30
  3213. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:three patients reported, one with a wdpcp mutation (last curated january 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:three patients reported, one with a wdpcp mutation (last curated january 2015) | rel=r_associated | relid=0 | w=30
  3214. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:three unrelated families have been reported (last curated february 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:three unrelated families have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=30
  3215. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:three unrelated girls have been reported (as of july 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:three unrelated girls have been reported (as of july 2011) | rel=r_associated | relid=0 | w=30
  3216. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:three unrelated patients have been reported (last curated july 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:three unrelated patients have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=30
  3217. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:toe-walking gait
    n1=en:incidence of 1 in 250,000 births | n2=en:toe-walking gait | rel=r_associated | relid=0 | w=30
  3218. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:torso and upper body remain normal in shape and contour
    n1=en:incidence of 1 in 250,000 births | n2=en:torso and upper body remain normal in shape and contour | rel=r_associated | relid=0 | w=30
  3219. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:toxicologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
    n1=en:incidence of 1 in 250,000 births | 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=30
  3220. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:trauma may accelerate symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:trauma may accelerate symptoms | rel=r_associated | relid=0 | w=30
  3221. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:tremor may be elicited by movement or postural maintenance
    n1=en:incidence of 1 in 250,000 births | n2=en:tremor may be elicited by movement or postural maintenance | rel=r_associated | relid=0 | w=30
  3222. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:trp2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both the trps1 (604386) and ext1 (608177) genes
    n1=en:incidence of 1 in 250,000 births | 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=30
  3223. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:two families have been reported (as of may 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:two families have been reported (as of may 2011) | rel=r_associated | relid=0 | w=30
  3224. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:two families with different phenotypes have been reported (as of september 2010)
    n1=en:incidence of 1 in 250,000 births | n2=en:two families with different phenotypes have been reported (as of september 2010) | rel=r_associated | relid=0 | w=30
  3225. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:two patients without cardiomyopathy or cataracts have been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:two patients without cardiomyopathy or cataracts have been reported | rel=r_associated | relid=0 | w=30
  3226. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:two probands have been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:two probands have been reported | rel=r_associated | relid=0 | w=30
  3227. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:two related patients have been reported (as of november 2010)
    n1=en:incidence of 1 in 250,000 births | n2=en:two related patients have been reported (as of november 2010) | rel=r_associated | relid=0 | w=30
  3228. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:two thirds of patients are female
    n1=en:incidence of 1 in 250,000 births | n2=en:two thirds of patients are female | rel=r_associated | relid=0 | w=30
  3229. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:two types - severe infantile form (type i) and milder form (type ii)
    n1=en:incidence of 1 in 250,000 births | n2=en:two types - severe infantile form (type i) and milder form (type ii) | rel=r_associated | relid=0 | w=30
  3230. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:two types, type i or type a (classical cockayne syndrome, 216400) and type ii or type b (severe cockayne syndrome, 133540)
    n1=en:incidence of 1 in 250,000 births | 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=30
  3231. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:two unrelated families have been reported (last curated may 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated families have been reported (last curated may 2014) | rel=r_associated | relid=0 | w=30
  3232. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:two unrelated patients have been reported (as of june 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients have been reported (as of june 2011) | rel=r_associated | relid=0 | w=30
  3233. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood | rel=r_associated | relid=0 | w=30
  3234. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:two unrelated patients have been reported (last curated october 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients have been reported (last curated october 2012) | rel=r_associated | relid=0 | w=30
  3235. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:two unrelated patients have been reported (last curated october 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients have been reported (last curated october 2013) | rel=r_associated | relid=0 | w=30
  3236. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:type iia tends to have more severe phenotype with earlier onset
    n1=en:incidence of 1 in 250,000 births | n2=en:type iia tends to have more severe phenotype with earlier onset | rel=r_associated | relid=0 | w=30
  3237. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:upper limb involvement occur later
    n1=en:incidence of 1 in 250,000 births | n2=en:upper limb involvement occur later | rel=r_associated | relid=0 | w=30
  3238. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:usher syndrome type iii (postlingual progressive deafness, variable vestibular dysfunction, and progressive retinitis pigmentosa with variable age of onset) - 1 locus
    n1=en:incidence of 1 in 250,000 births | 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=30
  3239. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:usual onset under age 30 years
    n1=en:incidence of 1 in 250,000 births | n2=en:usual onset under age 30 years | rel=r_associated | relid=0 | w=30
  3240. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:usually adult onset
    n1=en:incidence of 1 in 250,000 births | n2=en:usually adult onset | rel=r_associated | relid=0 | w=30
  3241. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:usually occurs in young adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:usually occurs in young adulthood | rel=r_associated | relid=0 | w=30
  3242. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:usually occurs in young adults
    n1=en:incidence of 1 in 250,000 births | n2=en:usually occurs in young adults | rel=r_associated | relid=0 | w=30
  3243. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:usually sporadic, few cases described with autosomal dominant inheritance
    n1=en:incidence of 1 in 250,000 births | n2=en:usually sporadic, few cases described with autosomal dominant inheritance | rel=r_associated | relid=0 | w=30
  3244. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:variable abnormalities
    n1=en:incidence of 1 in 250,000 births | n2=en:variable abnormalities | rel=r_associated | relid=0 | w=30
  3245. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:variable age at diagnosis
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at diagnosis | rel=r_associated | relid=0 | w=30
  3246. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:variable age at onset (earliest reported 7 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (earliest reported 7 years) | rel=r_associated | relid=0 | w=30
  3247. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:variable age at onset (range 14 to 50 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (range 14 to 50 years) | rel=r_associated | relid=0 | w=30
  3248. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:variable age at onset (range childhood to mid-sixties)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (range childhood to mid-sixties) | rel=r_associated | relid=0 | w=30
  3249. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:variable age at onset (range first to third decade)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (range first to third decade) | rel=r_associated | relid=0 | w=30
  3250. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:variable age at onset (range late infancy to adulthood)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (range late infancy to adulthood) | rel=r_associated | relid=0 | w=30
  3251. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:variable age at onset of seizures
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset of seizures | rel=r_associated | relid=0 | w=30
  3252. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:variable age of onset of parkinsonism (first decade to adulthood)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age of onset of parkinsonism (first decade to adulthood) | rel=r_associated | relid=0 | w=30
  3253. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:variable age of onset of renal manifestations
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age of onset of renal manifestations | rel=r_associated | relid=0 | w=30
  3254. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:variable age of onset, ranging from 11 to 50 years
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age of onset, ranging from 11 to 50 years | rel=r_associated | relid=0 | w=30
  3255. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:variable cataract phenotypes within a family
    n1=en:incidence of 1 in 250,000 births | n2=en:variable cataract phenotypes within a family | rel=r_associated | relid=0 | w=30
  3256. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:variable expression in females otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:variable expression in females otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder | rel=r_associated | relid=0 | w=30
  3257. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:variable features present
    n1=en:incidence of 1 in 250,000 births | n2=en:variable features present | rel=r_associated | relid=0 | w=30
  3258. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:variable presentation and evolution of symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:variable presentation and evolution of symptoms | rel=r_associated | relid=0 | w=30
  3259. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:variable response to vitamin b12 therapy
    n1=en:incidence of 1 in 250,000 births | n2=en:variable response to vitamin b12 therapy | rel=r_associated | relid=0 | w=30
  3260. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:vasculitic symptoms are associated with cold exposure (in some patients)
    n1=en:incidence of 1 in 250,000 births | n2=en:vasculitic symptoms are associated with cold exposure (in some patients) | rel=r_associated | relid=0 | w=30
  3261. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:vertical eye movement abnormalities appear before horizontal eye movement abnormalities
    n1=en:incidence of 1 in 250,000 births | n2=en:vertical eye movement abnormalities appear before horizontal eye movement abnormalities | rel=r_associated | relid=0 | w=30
  3262. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:very few patients reported
    n1=en:incidence of 1 in 250,000 births | n2=en:very few patients reported | rel=r_associated | relid=0 | w=30
  3263. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:very variable phenotype, with some patients having many features and others only a few
    n1=en:incidence of 1 in 250,000 births | n2=en:very variable phenotype, with some patients having many features and others only a few | rel=r_associated | relid=0 | w=30
  3264. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:vhl type 1 - renal carcinoma and hemangioblastoma
    n1=en:incidence of 1 in 250,000 births | n2=en:vhl type 1 - renal carcinoma and hemangioblastoma | rel=r_associated | relid=0 | w=30
  3265. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:visual acuity varies considerably, depending on the presence of secondary defects such as retinal exudates or detachment
    n1=en:incidence of 1 in 250,000 births | 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=30
  3266. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:visual field and color defects invariably present only in patients with advanced loss of vision
    n1=en:incidence of 1 in 250,000 births | n2=en:visual field and color defects invariably present only in patients with advanced loss of vision | rel=r_associated | relid=0 | w=30
  3267. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:wasting of the hands is the first and most prominent manifestation
    n1=en:incidence of 1 in 250,000 births | n2=en:wasting of the hands is the first and most prominent manifestation | rel=r_associated | relid=0 | w=30
  3268. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:waxing and waning cardiomyopathy (in some patients)
    n1=en:incidence of 1 in 250,000 births | n2=en:waxing and waning cardiomyopathy (in some patients) | rel=r_associated | relid=0 | w=30
  3269. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:wheelchair use by 10-30 years
    n1=en:incidence of 1 in 250,000 births | n2=en:wheelchair use by 10-30 years | rel=r_associated | relid=0 | w=30
  3270. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:wide range of severity between affected members of the same family
    n1=en:incidence of 1 in 250,000 births | n2=en:wide range of severity between affected members of the same family | rel=r_associated | relid=0 | w=30
  3271. en:incidence of 1 in 250,000 births -- r_associated #0: 30 / 0.698 -> en:x-linked inheritance could not be ruled out
    n1=en:incidence of 1 in 250,000 births | n2=en:x-linked inheritance could not be ruled out | rel=r_associated | relid=0 | w=30
  3272. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:(1) classic severe (onset of symptoms 4 to 7 days of age)
    n1=en:incidence of 1 in 250,000 births | n2=en:(1) classic severe (onset of symptoms 4 to 7 days of age) | rel=r_associated | relid=0 | w=29
  3273. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:1.02 kb genomic deletion in 85% of batten disease alleles worldwide
    n1=en:incidence of 1 in 250,000 births | n2=en:1.02 kb genomic deletion in 85% of batten disease alleles worldwide | rel=r_associated | relid=0 | w=29
  3274. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:2-3% due to imprinting defects
    n1=en:incidence of 1 in 250,000 births | n2=en:2-3% due to imprinting defects | rel=r_associated | relid=0 | w=29
  3275. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:a nonspecific marker of somatic mosaicism
    n1=en:incidence of 1 in 250,000 births | n2=en:a nonspecific marker of somatic mosaicism | rel=r_associated | relid=0 | w=29
  3276. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:about 15% of female carriers develop renal insufficiency in the second or third decade
    n1=en:incidence of 1 in 250,000 births | n2=en:about 15% of female carriers develop renal insufficiency in the second or third decade | rel=r_associated | relid=0 | w=29
  3277. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms | rel=r_associated | relid=0 | w=29
  3278. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:acute attacks lasting 24-48 hours
    n1=en:incidence of 1 in 250,000 births | n2=en:acute attacks lasting 24-48 hours | rel=r_associated | relid=0 | w=29
  3279. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:additional features are variably present
    n1=en:incidence of 1 in 250,000 births | n2=en:additional features are variably present | rel=r_associated | relid=0 | w=29
  3280. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:adult onset (18 to 60 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (18 to 60 years) | rel=r_associated | relid=0 | w=29
  3281. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:adult onset (27 to 48 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (27 to 48 years) | rel=r_associated | relid=0 | w=29
  3282. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:adult onset (range 28 to 55 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (range 28 to 55 years) | rel=r_associated | relid=0 | w=29
  3283. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:adult onset from second to seventh decade
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset from second to seventh decade | rel=r_associated | relid=0 | w=29
  3284. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:adult onset may occur
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset may occur | rel=r_associated | relid=0 | w=29
  3285. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:adult onset rarely reported
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset rarely reported | rel=r_associated | relid=0 | w=29
  3286. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:adult-onset in third to fourth decade
    n1=en:incidence of 1 in 250,000 births | n2=en:adult-onset in third to fourth decade | rel=r_associated | relid=0 | w=29
  3287. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:adults may be asymptomatic
    n1=en:incidence of 1 in 250,000 births | n2=en:adults may be asymptomatic | rel=r_associated | relid=0 | w=29
  3288. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:affected individuals can pull hair from any part of the body, including eyelashes and eyebrows
    n1=en:incidence of 1 in 250,000 births | n2=en:affected individuals can pull hair from any part of the body, including eyelashes and eyebrows | rel=r_associated | relid=0 | w=29
  3289. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:affected individuals remain ambulatory in old age
    n1=en:incidence of 1 in 250,000 births | n2=en:affected individuals remain ambulatory in old age | rel=r_associated | relid=0 | w=29
  3290. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:affected males are all result of new mutation
    n1=en:incidence of 1 in 250,000 births | n2=en:affected males are all result of new mutation | rel=r_associated | relid=0 | w=29
  3291. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:affects up to 10% of women in their reproductive years
    n1=en:incidence of 1 in 250,000 births | n2=en:affects up to 10% of women in their reproductive years | rel=r_associated | relid=0 | w=29
  3292. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:age at onset from 3 to 51 years (mean 19.2 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:age at onset from 3 to 51 years (mean 19.2 years) | rel=r_associated | relid=0 | w=29
  3293. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:age of onset 5 to 40 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset 5 to 40 years | rel=r_associated | relid=0 | w=29
  3294. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:age of onset ranges from 1 to 47 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset ranges from 1 to 47 years | rel=r_associated | relid=0 | w=29
  3295. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:age on onset - adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:age on onset - adolescence | rel=r_associated | relid=0 | w=29
  3296. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:aggravated by physical activity
    n1=en:incidence of 1 in 250,000 births | n2=en:aggravated by physical activity | rel=r_associated | relid=0 | w=29
  3297. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:all affected individuals have been stillborn or died in the neonatal period
    n1=en:incidence of 1 in 250,000 births | n2=en:all affected individuals have been stillborn or died in the neonatal period | rel=r_associated | relid=0 | w=29
  3298. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:all cases have been stillborn or immediate neonatal death
    n1=en:incidence of 1 in 250,000 births | n2=en:all cases have been stillborn or immediate neonatal death | rel=r_associated | relid=0 | w=29
  3299. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:all cases presumed de novo mutation
    n1=en:incidence of 1 in 250,000 births | n2=en:all cases presumed de novo mutation | rel=r_associated | relid=0 | w=29
  3300. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:allelic disorder to nonaka myopathy (605820)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to nonaka myopathy (605820) | rel=r_associated | relid=0 | w=29
  3301. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500) | rel=r_associated | relid=0 | w=29
  3302. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> 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:incidence of 1 in 250,000 births | 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=29
  3303. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:allelic to aicardi-goutieres syndrome (225750)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to aicardi-goutieres syndrome (225750) | rel=r_associated | relid=0 | w=29
  3304. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:allelic to brachydactyly, type a2 (112600)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to brachydactyly, type a2 (112600) | rel=r_associated | relid=0 | w=29
  3305. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:allelic to cartilage-hair hypoplasia (250250)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to cartilage-hair hypoplasia (250250) | rel=r_associated | relid=0 | w=29
  3306. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:allelic to cowden disease (158350), which has a later age at onset
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to cowden disease (158350), which has a later age at onset | rel=r_associated | relid=0 | w=29
  3307. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:allelic to dyggve-melchior-clausen disease (223800)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to dyggve-melchior-clausen disease (223800) | rel=r_associated | relid=0 | w=29
  3308. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:allelic to early-onset familial alzheimer disease (ad1, 104300)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to early-onset familial alzheimer disease (ad1, 104300) | rel=r_associated | relid=0 | w=29
  3309. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:allelic to hand osteoarthritis (607850)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to hand osteoarthritis (607850) | rel=r_associated | relid=0 | w=29
  3310. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:allelic to myosin storage myopathy (608358)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to myosin storage myopathy (608358) | rel=r_associated | relid=0 | w=29
  3311. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:allelic to neurofibromatosis-1 (nf1, 162200)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to neurofibromatosis-1 (nf1, 162200) | rel=r_associated | relid=0 | w=29
  3312. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650) | rel=r_associated | relid=0 | w=29
  3313. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:allelic to spondyloepimetaphyseal dysplasia, matn-3 related (608728)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to spondyloepimetaphyseal dysplasia, matn-3 related (608728) | rel=r_associated | relid=0 | w=29
  3314. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), type ii van buchem disease (607636), and high bone mass (601884)
    n1=en:incidence of 1 in 250,000 births | 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=29
  3315. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:alpha-l-iduronidase activity is <1% for all forms of mps1
    n1=en:incidence of 1 in 250,000 births | n2=en:alpha-l-iduronidase activity is <1% for all forms of mps1 | rel=r_associated | relid=0 | w=29
  3316. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:approximately 12 patients have been reported (as of march 2010)
    n1=en:incidence of 1 in 250,000 births | n2=en:approximately 12 patients have been reported (as of march 2010) | rel=r_associated | relid=0 | w=29
  3317. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:approximately 35% of patients die during the first 2 years of life
    n1=en:incidence of 1 in 250,000 births | n2=en:approximately 35% of patients die during the first 2 years of life | rel=r_associated | relid=0 | w=29
  3318. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:approximately 50% of cases are acute, severe neonatal illness often with rapid death and 50% are chronic episodic with asymptomatic intervals
    n1=en:incidence of 1 in 250,000 births | 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=29
  3319. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:approximately 70-80% of cases are de novo and sporadic
    n1=en:incidence of 1 in 250,000 births | n2=en:approximately 70-80% of cases are de novo and sporadic | rel=r_associated | relid=0 | w=29
  3320. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:approximately 80% of cs patients have pten mutations
    n1=en:incidence of 1 in 250,000 births | n2=en:approximately 80% of cs patients have pten mutations | rel=r_associated | relid=0 | w=29
  3321. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:arrhythmias detected prenatally (in some patients)
    n1=en:incidence of 1 in 250,000 births | n2=en:arrhythmias detected prenatally (in some patients) | rel=r_associated | relid=0 | w=29
  3322. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:as of 2009, one family has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:as of 2009, one family has been reported | rel=r_associated | relid=0 | w=29
  3323. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:associated specifically with the gba d409h mutation (606463.0006)
    n1=en:incidence of 1 in 250,000 births | n2=en:associated specifically with the gba d409h mutation (606463.0006) | rel=r_associated | relid=0 | w=29
  3324. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> 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:incidence of 1 in 250,000 births | 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=29
  3325. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:at birth, there is generalized red scaly skin
    n1=en:incidence of 1 in 250,000 births | n2=en:at birth, there is generalized red scaly skin | rel=r_associated | relid=0 | w=29
  3326. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes
    n1=en:incidence of 1 in 250,000 births | n2=en:attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes | rel=r_associated | relid=0 | w=29
  3327. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:attacks rarely occur before puberty (hcp)
    n1=en:incidence of 1 in 250,000 births | n2=en:attacks rarely occur before puberty (hcp) | rel=r_associated | relid=0 | w=29
  3328. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:atypical affected males, 'cardiac variants' 301500.0005 exist
    n1=en:incidence of 1 in 250,000 births | n2=en:atypical affected males, 'cardiac variants' 301500.0005 exist | rel=r_associated | relid=0 | w=29
  3329. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later
    n1=en:incidence of 1 in 250,000 births | n2=en:atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later | rel=r_associated | relid=0 | w=29
  3330. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:autosomal dominant inheritance has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal dominant inheritance has been reported | rel=r_associated | relid=0 | w=29
  3331. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:autosomal dominant transmission has been rarely reported
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal dominant transmission has been rarely reported | rel=r_associated | relid=0 | w=29
  3332. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:autosomal dominant with incomplete penetrance
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal dominant with incomplete penetrance | rel=r_associated | relid=0 | w=29
  3333. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:autosomal recessive inheritance has been described in 2 families
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal recessive inheritance has been described in 2 families | rel=r_associated | relid=0 | w=29
  3334. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:autosomal recessive inheritance with earlier onset has been suggested
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal recessive inheritance with earlier onset has been suggested | rel=r_associated | relid=0 | w=29
  3335. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:average age at onset 16.6 years
    n1=en:incidence of 1 in 250,000 births | n2=en:average age at onset 16.6 years | rel=r_associated | relid=0 | w=29
  3336. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:average age at onset 31 years (range 7 to 54)
    n1=en:incidence of 1 in 250,000 births | n2=en:average age at onset 31 years (range 7 to 54) | rel=r_associated | relid=0 | w=29
  3337. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:average age at onset is 24 years (range 4 to 58 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:average age at onset is 24 years (range 4 to 58 years) | rel=r_associated | relid=0 | w=29
  3338. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:based on 1 reported patient (last curated november 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on 1 reported patient (last curated november 2013) | rel=r_associated | relid=0 | w=29
  3339. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:based on 2 reports of 3 patients (last curated september 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on 2 reports of 3 patients (last curated september 2012) | rel=r_associated | relid=0 | w=29
  3340. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:based on four patients in a four generation family
    n1=en:incidence of 1 in 250,000 births | n2=en:based on four patients in a four generation family | rel=r_associated | relid=0 | w=29
  3341. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:based on report of 2 families (last curated january 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on report of 2 families (last curated january 2014) | rel=r_associated | relid=0 | w=29
  3342. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> 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:incidence of 1 in 250,000 births | 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=29
  3343. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:can be asymptomatic
    n1=en:incidence of 1 in 250,000 births | n2=en:can be asymptomatic | rel=r_associated | relid=0 | w=29
  3344. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:candidiasis is restricted to nails of hands and feet
    n1=en:incidence of 1 in 250,000 births | n2=en:candidiasis is restricted to nails of hands and feet | rel=r_associated | relid=0 | w=29
  3345. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:carnitine supplementation can prevent further episodes and declines in cardiac function
    n1=en:incidence of 1 in 250,000 births | n2=en:carnitine supplementation can prevent further episodes and declines in cardiac function | rel=r_associated | relid=0 | w=29
  3346. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:carrier females are less affected (short stature with rhizomelic shortening of limbs, mild body asymmetry, and mild mental retardation)
    n1=en:incidence of 1 in 250,000 births | 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=29
  3347. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:carrier females may show neuropsychologic impairment
    n1=en:incidence of 1 in 250,000 births | n2=en:carrier females may show neuropsychologic impairment | rel=r_associated | relid=0 | w=29
  3348. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:cataracts present at birth or develop in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:cataracts present at birth or develop in infancy | rel=r_associated | relid=0 | w=29
  3349. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:childhood onset
    n1=en:incidence of 1 in 250,000 births | n2=en:childhood onset | rel=r_associated | relid=0 | w=29
  3350. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:childhood onset has been reported in 1 family
    n1=en:incidence of 1 in 250,000 births | n2=en:childhood onset has been reported in 1 family | rel=r_associated | relid=0 | w=29
  3351. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years
    n1=en:incidence of 1 in 250,000 births | n2=en:classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years | rel=r_associated | relid=0 | w=29
  3352. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> 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:incidence of 1 in 250,000 births | 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=29
  3353. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers
    n1=en:incidence of 1 in 250,000 births | n2=en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers | rel=r_associated | relid=0 | w=29
  3354. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:codominant inheritance has been suggested
    n1=en:incidence of 1 in 250,000 births | n2=en:codominant inheritance has been suggested | rel=r_associated | relid=0 | w=29
  3355. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:cold-induced sweating develops late in the first decade
    n1=en:incidence of 1 in 250,000 births | n2=en:cold-induced sweating develops late in the first decade | rel=r_associated | relid=0 | w=29
  3356. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:complete manifestation in males
    n1=en:incidence of 1 in 250,000 births | n2=en:complete manifestation in males | rel=r_associated | relid=0 | w=29
  3357. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:complete penetrance
    n1=en:incidence of 1 in 250,000 births | n2=en:complete penetrance | rel=r_associated | relid=0 | w=29
  3358. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:complete penetrance with variable expressivity
    n1=en:incidence of 1 in 250,000 births | n2=en:complete penetrance with variable expressivity | rel=r_associated | relid=0 | w=29
  3359. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:connatal form (type ii), most severe with death in first decade
    n1=en:incidence of 1 in 250,000 births | n2=en:connatal form (type ii), most severe with death in first decade | rel=r_associated | relid=0 | w=29
  3360. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:considered to be a severe form of gaucher disease type ii (230900)
    n1=en:incidence of 1 in 250,000 births | n2=en:considered to be a severe form of gaucher disease type ii (230900) | rel=r_associated | relid=0 | w=29
  3361. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:cutaneous symptoms induced by cold exposure or cooling
    n1=en:incidence of 1 in 250,000 births | n2=en:cutaneous symptoms induced by cold exposure or cooling | rel=r_associated | relid=0 | w=29
  3362. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:date of autopsy:date:pt:^patient:qn
    n1=en:incidence of 1 in 250,000 births | n2=en:date of autopsy:date:pt:^patient:qn | rel=r_associated | relid=0 | w=29
  3363. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:date reference lab test sent:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative
    n1=en:incidence of 1 in 250,000 births | 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=29
  3364. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:death in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:death in childhood | rel=r_associated | relid=0 | w=29
  3365. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:death in childhood is frequent due to respiratory failure
    n1=en:incidence of 1 in 250,000 births | n2=en:death in childhood is frequent due to respiratory failure | rel=r_associated | relid=0 | w=29
  3366. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:death in early childhood may occur
    n1=en:incidence of 1 in 250,000 births | n2=en:death in early childhood may occur | rel=r_associated | relid=0 | w=29
  3367. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:death in first months of life
    n1=en:incidence of 1 in 250,000 births | n2=en:death in first months of life | rel=r_associated | relid=0 | w=29
  3368. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:death in majority of infants soon after birth
    n1=en:incidence of 1 in 250,000 births | n2=en:death in majority of infants soon after birth | rel=r_associated | relid=0 | w=29
  3369. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:death in perinatal period
    n1=en:incidence of 1 in 250,000 births | n2=en:death in perinatal period | rel=r_associated | relid=0 | w=29
  3370. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:death may occur in early infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:death may occur in early infancy | rel=r_associated | relid=0 | w=29
  3371. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:death occurs in second or third decade
    n1=en:incidence of 1 in 250,000 births | n2=en:death occurs in second or third decade | rel=r_associated | relid=0 | w=29
  3372. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:death secondary to respiratory infection or failure
    n1=en:incidence of 1 in 250,000 births | n2=en:death secondary to respiratory infection or failure | rel=r_associated | relid=0 | w=29
  3373. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:death usually by age 3 years
    n1=en:incidence of 1 in 250,000 births | n2=en:death usually by age 3 years | rel=r_associated | relid=0 | w=29
  3374. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:death usually in early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:death usually in early childhood | rel=r_associated | relid=0 | w=29
  3375. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:death usually occurs by age 2 years
    n1=en:incidence of 1 in 250,000 births | n2=en:death usually occurs by age 2 years | rel=r_associated | relid=0 | w=29
  3376. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:deletions in naip gene (600355) found in 18% of smaii patients
    n1=en:incidence of 1 in 250,000 births | n2=en:deletions in naip gene (600355) found in 18% of smaii patients | rel=r_associated | relid=0 | w=29
  3377. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:described in individuals of roma gypsy origin (founder mutation)
    n1=en:incidence of 1 in 250,000 births | n2=en:described in individuals of roma gypsy origin (founder mutation) | rel=r_associated | relid=0 | w=29
  3378. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:dip is a pathologic diagnosis that may represent other disease entities
    n1=en:incidence of 1 in 250,000 births | n2=en:dip is a pathologic diagnosis that may represent other disease entities | rel=r_associated | relid=0 | w=29
  3379. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:disease exacerbation during summer due to heat
    n1=en:incidence of 1 in 250,000 births | n2=en:disease exacerbation during summer due to heat | rel=r_associated | relid=0 | w=29
  3380. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:distinct disorder from reduced zinc in breast milk (608118)
    n1=en:incidence of 1 in 250,000 births | n2=en:distinct disorder from reduced zinc in breast milk (608118) | rel=r_associated | relid=0 | w=29
  3381. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:distinct from pili annulati (180600)
    n1=en:incidence of 1 in 250,000 births | n2=en:distinct from pili annulati (180600) | rel=r_associated | relid=0 | w=29
  3382. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:diurnal fluctuation, more apparent in earlier years, later subsides
    n1=en:incidence of 1 in 250,000 births | n2=en:diurnal fluctuation, more apparent in earlier years, later subsides | rel=r_associated | relid=0 | w=29
  3383. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:dysmorphic facial features reported in 1 family
    n1=en:incidence of 1 in 250,000 births | n2=en:dysmorphic facial features reported in 1 family | rel=r_associated | relid=0 | w=29
  3384. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:early age of onset, usually less than 3 years
    n1=en:incidence of 1 in 250,000 births | n2=en:early age of onset, usually less than 3 years | rel=r_associated | relid=0 | w=29
  3385. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:early death (in some patients)
    n1=en:incidence of 1 in 250,000 births | n2=en:early death (in some patients) | rel=r_associated | relid=0 | w=29
  3386. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:early death due to sepsis
    n1=en:incidence of 1 in 250,000 births | n2=en:early death due to sepsis | rel=r_associated | relid=0 | w=29
  3387. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:early death in some patients due to cardiorespiratory involvement
    n1=en:incidence of 1 in 250,000 births | n2=en:early death in some patients due to cardiorespiratory involvement | rel=r_associated | relid=0 | w=29
  3388. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:early lethality
    n1=en:incidence of 1 in 250,000 births | n2=en:early lethality | rel=r_associated | relid=0 | w=29
  3389. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:early onset (1 month to 4 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:early onset (1 month to 4 years) | rel=r_associated | relid=0 | w=29
  3390. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:early onset (average 1 year)
    n1=en:incidence of 1 in 250,000 births | n2=en:early onset (average 1 year) | rel=r_associated | relid=0 | w=29
  3391. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:early onset has rarely been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:early onset has rarely been reported | rel=r_associated | relid=0 | w=29
  3392. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:episode frequency is monthly to yearly, and decreases with age
    n1=en:incidence of 1 in 250,000 births | n2=en:episode frequency is monthly to yearly, and decreases with age | rel=r_associated | relid=0 | w=29
  3393. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:episodes are followed by exhaustion and sleep
    n1=en:incidence of 1 in 250,000 births | n2=en:episodes are followed by exhaustion and sleep | rel=r_associated | relid=0 | w=29
  3394. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:episodes are triggered by hunger, fatigue, cold, stress
    n1=en:incidence of 1 in 250,000 births | n2=en:episodes are triggered by hunger, fatigue, cold, stress | rel=r_associated | relid=0 | w=29
  3395. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:episodes brought on by fasting or infection
    n1=en:incidence of 1 in 250,000 births | n2=en:episodes brought on by fasting or infection | rel=r_associated | relid=0 | w=29
  3396. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:episodes last 2 days to 1 week
    n1=en:incidence of 1 in 250,000 births | n2=en:episodes last 2 days to 1 week | rel=r_associated | relid=0 | w=29
  3397. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:episodes last about 1.5 hours
    n1=en:incidence of 1 in 250,000 births | n2=en:episodes last about 1.5 hours | rel=r_associated | relid=0 | w=29
  3398. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:exercise intolerance often evident in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:exercise intolerance often evident in childhood | rel=r_associated | relid=0 | w=29
  3399. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:exon 7 of smn1 is absent in 95.6% of sma1 patients
    n1=en:incidence of 1 in 250,000 births | n2=en:exon 7 of smn1 is absent in 95.6% of sma1 patients | rel=r_associated | relid=0 | w=29
  3400. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:facial dysmorphism is age-related and alters substantially over time
    n1=en:incidence of 1 in 250,000 births | n2=en:facial dysmorphism is age-related and alters substantially over time | rel=r_associated | relid=0 | w=29
  3401. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:facial palsy often transient in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:facial palsy often transient in infancy | rel=r_associated | relid=0 | w=29
  3402. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:familial hemiplegic migraine-2 (fhm2, 602481) is an allelic disorder with an overlapping phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:familial hemiplegic migraine-2 (fhm2, 602481) is an allelic disorder with an overlapping phenotype | rel=r_associated | relid=0 | w=29
  3403. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:fatal without lung transplant
    n1=en:incidence of 1 in 250,000 births | n2=en:fatal without lung transplant | rel=r_associated | relid=0 | w=29
  3404. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:favorable response of episodic attacks to acetazolamide
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response of episodic attacks to acetazolamide | rel=r_associated | relid=0 | w=29
  3405. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:favorable response to clonazepam
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to clonazepam | rel=r_associated | relid=0 | w=29
  3406. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:favorable response to sodium chloride treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to sodium chloride treatment | rel=r_associated | relid=0 | w=29
  3407. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:favorable response to treatment with minocycline or azithromycin
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to treatment with minocycline or azithromycin | rel=r_associated | relid=0 | w=29
  3408. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:features occur episodically
    n1=en:incidence of 1 in 250,000 births | n2=en:features occur episodically | rel=r_associated | relid=0 | w=29
  3409. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:features usually appear during adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:features usually appear during adulthood | rel=r_associated | relid=0 | w=29
  3410. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:feet are unaffected
    n1=en:incidence of 1 in 250,000 births | n2=en:feet are unaffected | rel=r_associated | relid=0 | w=29
  3411. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:feet are unaffected in some patients
    n1=en:incidence of 1 in 250,000 births | n2=en:feet are unaffected in some patients | rel=r_associated | relid=0 | w=29
  3412. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:female carriers may be affected
    n1=en:incidence of 1 in 250,000 births | n2=en:female carriers may be affected | rel=r_associated | relid=0 | w=29
  3413. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:female to male ratio 5:1
    n1=en:incidence of 1 in 250,000 births | n2=en:female to male ratio 5:1 | rel=r_associated | relid=0 | w=29
  3414. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:female to male ratio ranges from 2:1 to 4:1
    n1=en:incidence of 1 in 250,000 births | n2=en:female to male ratio ranges from 2:1 to 4:1 | rel=r_associated | relid=0 | w=29
  3415. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:females have milder manifestations than males
    n1=en:incidence of 1 in 250,000 births | n2=en:females have milder manifestations than males | rel=r_associated | relid=0 | w=29
  3416. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:fetal death usually occurs
    n1=en:incidence of 1 in 250,000 births | n2=en:fetal death usually occurs | rel=r_associated | relid=0 | w=29
  3417. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:first identified in individuals of cypriot origin
    n1=en:incidence of 1 in 250,000 births | n2=en:first identified in individuals of cypriot origin | rel=r_associated | relid=0 | w=29
  3418. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:five patients have been reported (as of april 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:five patients have been reported (as of april 2011) | rel=r_associated | relid=0 | w=29
  3419. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:five patients reported (as of march 2009)
    n1=en:incidence of 1 in 250,000 births | n2=en:five patients reported (as of march 2009) | rel=r_associated | relid=0 | w=29
  3420. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:five reported patients, all boys (as of july 2009)
    n1=en:incidence of 1 in 250,000 births | n2=en:five reported patients, all boys (as of july 2009) | rel=r_associated | relid=0 | w=29
  3421. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:flares triggered by viral infection, overexertion, stress
    n1=en:incidence of 1 in 250,000 births | n2=en:flares triggered by viral infection, overexertion, stress | rel=r_associated | relid=0 | w=29
  3422. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:food related behavioral problems include excessive appetite and obsession with eating
    n1=en:incidence of 1 in 250,000 births | n2=en:food related behavioral problems include excessive appetite and obsession with eating | rel=r_associated | relid=0 | w=29
  3423. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:foot dragging may appear in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:foot dragging may appear in childhood | rel=r_associated | relid=0 | w=29
  3424. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:for similar autosomal recessive form, see cln4 (204300)
    n1=en:incidence of 1 in 250,000 births | n2=en:for similar autosomal recessive form, see cln4 (204300) | rel=r_associated | relid=0 | w=29
  3425. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:four patients from 3 families have been reported (last curated december 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:four patients from 3 families have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=29
  3426. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:four patients have been reported (last curated june 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:four patients have been reported (last curated june 2013) | rel=r_associated | relid=0 | w=29
  3427. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%)
    n1=en:incidence of 1 in 250,000 births | n2=en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%) | rel=r_associated | relid=0 | w=29
  3428. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:four unrelated families have been reported (last curated february 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:four unrelated families have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=29
  3429. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:four unrelated families of caucasian european descent have been reported (last curated february 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:four unrelated families of caucasian european descent have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=29
  3430. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:fracture frequency decreased post puberty
    n1=en:incidence of 1 in 250,000 births | n2=en:fracture frequency decreased post puberty | rel=r_associated | relid=0 | w=29
  3431. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:fractures decrease after puberty but increase after menopause
    n1=en:incidence of 1 in 250,000 births | n2=en:fractures decrease after puberty but increase after menopause | rel=r_associated | relid=0 | w=29
  3432. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:frequency between 1 in 58,000 to 1 in 1,000,000
    n1=en:incidence of 1 in 250,000 births | n2=en:frequency between 1 in 58,000 to 1 in 1,000,000 | rel=r_associated | relid=0 | w=29
  3433. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:frequency of infections decreases after 3 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:frequency of infections decreases after 3 years of age | rel=r_associated | relid=0 | w=29
  3434. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:gastric suction pump, home model, portable or stationary, electric
    n1=en:incidence of 1 in 250,000 births | n2=en:gastric suction pump, home model, portable or stationary, electric | rel=r_associated | relid=0 | w=29
  3435. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:generalized fatigue
    n1=en:incidence of 1 in 250,000 births | n2=en:generalized fatigue | rel=r_associated | relid=0 | w=29
  3436. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:genetic anticipation occurs
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic anticipation occurs | rel=r_associated | relid=0 | w=29
  3437. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see 145410)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see 145410) | rel=r_associated | relid=0 | w=29
  3438. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see 213300)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see 213300) | rel=r_associated | relid=0 | w=29
  3439. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see cms1a2, 254210)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see cms1a2, 254210) | rel=r_associated | relid=0 | w=29
  3440. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see cmt1b 118200)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see cmt1b 118200) | rel=r_associated | relid=0 | w=29
  3441. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see hhf1 256450)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see hhf1 256450) | rel=r_associated | relid=0 | w=29
  3442. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see lgmd1a 159000 for overview)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see lgmd1a 159000 for overview) | rel=r_associated | relid=0 | w=29
  3443. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see rieg2, 601499)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see rieg2, 601499) | rel=r_associated | relid=0 | w=29
  3444. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see, e.g., atfb1, 608583)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see, e.g., atfb1, 608583) | rel=r_associated | relid=0 | w=29
  3445. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see, e.g., cockayne syndrome type b, 133540)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see, e.g., cockayne syndrome type b, 133540) | rel=r_associated | relid=0 | w=29
  3446. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity, see ags2 (610181), ags3 (610329), and ags4 (610333)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity, see ags2 (610181), ags3 (610329), and ags4 (610333) | rel=r_associated | relid=0 | w=29
  3447. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity, see apmr1 (203650)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity, see apmr1 (203650) | rel=r_associated | relid=0 | w=29
  3448. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity, see mgr1 (157300)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity, see mgr1 (157300) | rel=r_associated | relid=0 | w=29
  3449. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity, see spg3a (182600)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity, see spg3a (182600) | rel=r_associated | relid=0 | w=29
  3450. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:geneticist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
    n1=en:incidence of 1 in 250,000 births | 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=29
  3451. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:germline or somatic mutations may cause the disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:germline or somatic mutations may cause the disorder | rel=r_associated | relid=0 | w=29
  3452. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:gms is goniodysgenesis, mental deficiency, and short stature
    n1=en:incidence of 1 in 250,000 births | n2=en:gms is goniodysgenesis, mental deficiency, and short stature | rel=r_associated | relid=0 | w=29
  3453. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:good response to medication
    n1=en:incidence of 1 in 250,000 births | n2=en:good response to medication | rel=r_associated | relid=0 | w=29
  3454. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:good response to phosphate treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:good response to phosphate treatment | rel=r_associated | relid=0 | w=29
  3455. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:good seizure control with medication
    n1=en:incidence of 1 in 250,000 births | n2=en:good seizure control with medication | rel=r_associated | relid=0 | w=29
  3456. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% x-ray changes only, 4% non-penetrant
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% x-ray changes only, 4% non-penetrant | rel=r_associated | relid=0 | w=29
  3457. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:heterozygotes are usually asymptomatic
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygotes are usually asymptomatic | rel=r_associated | relid=0 | w=29
  3458. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:heterozygotes have mild, transient hypothyroidism in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygotes have mild, transient hypothyroidism in infancy | rel=r_associated | relid=0 | w=29
  3459. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:heterozygous mutation present in 5-7% of the japanese population
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygous mutation present in 5-7% of the japanese population | rel=r_associated | relid=0 | w=29
  3460. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:high early mortality rate if untreated
    n1=en:incidence of 1 in 250,000 births | n2=en:high early mortality rate if untreated | rel=r_associated | relid=0 | w=29
  3461. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:high frequency among individuals of ashkenazi jewish descent (1 in 3,300)
    n1=en:incidence of 1 in 250,000 births | n2=en:high frequency among individuals of ashkenazi jewish descent (1 in 3,300) | rel=r_associated | relid=0 | w=29
  3462. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:high frequency in tibetan individuals
    n1=en:incidence of 1 in 250,000 births | n2=en:high frequency in tibetan individuals | rel=r_associated | relid=0 | w=29
  3463. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:high incidence of diabetes mellitus noted in opll patients
    n1=en:incidence of 1 in 250,000 births | n2=en:high incidence of diabetes mellitus noted in opll patients | rel=r_associated | relid=0 | w=29
  3464. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:high incidence of e. coli sepsis in untreated neonates
    n1=en:incidence of 1 in 250,000 births | n2=en:high incidence of e. coli sepsis in untreated neonates | rel=r_associated | relid=0 | w=29
  3465. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:high risk of death in infancy due to cardiac failure
    n1=en:incidence of 1 in 250,000 births | n2=en:high risk of death in infancy due to cardiac failure | rel=r_associated | relid=0 | w=29
  3466. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:highly variable frequency and duration of episodes
    n1=en:incidence of 1 in 250,000 births | n2=en:highly variable frequency and duration of episodes | rel=r_associated | relid=0 | w=29
  3467. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> 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:incidence of 1 in 250,000 births | 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=29
  3468. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:hundreds to thousands of patches of pale normal skin appear during childhood and increase in number and size over time
    n1=en:incidence of 1 in 250,000 births | 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=29
  3469. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:hyperpigmented skin macules appear after age 3 years and increase in frequency with age
    n1=en:incidence of 1 in 250,000 births | n2=en:hyperpigmented skin macules appear after age 3 years and increase in frequency with age | rel=r_associated | relid=0 | w=29
  3470. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:improvement of abnormal muscle biopsy and cox deficiency
    n1=en:incidence of 1 in 250,000 births | n2=en:improvement of abnormal muscle biopsy and cox deficiency | rel=r_associated | relid=0 | w=29
  3471. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:in severe attacks, hemiplegia or coma may last days to weeks
    n1=en:incidence of 1 in 250,000 births | n2=en:in severe attacks, hemiplegia or coma may last days to weeks | rel=r_associated | relid=0 | w=29
  3472. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:incidence - 1/16,000 live births
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence - 1/16,000 live births | rel=r_associated | relid=0 | w=29
  3473. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:incidence 1 in 300,000 in japan
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence 1 in 300,000 in japan | rel=r_associated | relid=0 | w=29
  3474. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:incidence of 1 in 25,000 livebirths
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 25,000 livebirths | rel=r_associated | relid=0 | w=29
  3475. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:incidence of 1 in 39,000
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 39,000 | rel=r_associated | relid=0 | w=29
  3476. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:incidence of 1 in 5,000 to 1 in 7,000 in moroccan jewish individuals
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 5,000 to 1 in 7,000 in moroccan jewish individuals | rel=r_associated | relid=0 | w=29
  3477. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:incidence of all forms of cjd is 0.5 to 1.5 per million per year
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of all forms of cjd is 0.5 to 1.5 per million per year | rel=r_associated | relid=0 | w=29
  3478. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:incidence ranges from 1 in 40,000 to 1 in 350,000 births
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence ranges from 1 in 40,000 to 1 in 350,000 births | rel=r_associated | relid=0 | w=29
  3479. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes | rel=r_associated | relid=0 | w=29
  3480. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:incomplete penetance of some features
    n1=en:incidence of 1 in 250,000 births | n2=en:incomplete penetance of some features | rel=r_associated | relid=0 | w=29
  3481. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:incomplete penetrance, some individuals have only emg changes without other clinical signs
    n1=en:incidence of 1 in 250,000 births | n2=en:incomplete penetrance, some individuals have only emg changes without other clinical signs | rel=r_associated | relid=0 | w=29
  3482. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:incomplete, age-associated penetrance
    n1=en:incidence of 1 in 250,000 births | n2=en:incomplete, age-associated penetrance | rel=r_associated | relid=0 | w=29
  3483. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:increased frequency in iraqi jews, selected arab populations, french gypsies, and natives of southern india
    n1=en:incidence of 1 in 250,000 births | n2=en:increased frequency in iraqi jews, selected arab populations, french gypsies, and natives of southern india | rel=r_associated | relid=0 | w=29
  3484. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:increased frequency in persian jews (1:1,300)
    n1=en:incidence of 1 in 250,000 births | n2=en:increased frequency in persian jews (1:1,300) | rel=r_associated | relid=0 | w=29
  3485. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> 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:incidence of 1 in 250,000 births | 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=29
  3486. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:increased frequency in the finnish population
    n1=en:incidence of 1 in 250,000 births | n2=en:increased frequency in the finnish population | rel=r_associated | relid=0 | w=29
  3487. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:increased prevalence in persons of ashkenazi jewish descent
    n1=en:incidence of 1 in 250,000 births | n2=en:increased prevalence in persons of ashkenazi jewish descent | rel=r_associated | relid=0 | w=29
  3488. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:increased susceptibility to malignant hyperthermia
    n1=en:incidence of 1 in 250,000 births | n2=en:increased susceptibility to malignant hyperthermia | rel=r_associated | relid=0 | w=29
  3489. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:increased susceptibility to toxic effects of treatment with 6-mercaptopurine (6mp), 6-thioguanine (6tg), and azathioprine (aza)
    n1=en:incidence of 1 in 250,000 births | 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=29
  3490. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:infantile form usually leads to death by age 2 years
    n1=en:incidence of 1 in 250,000 births | n2=en:infantile form usually leads to death by age 2 years | rel=r_associated | relid=0 | w=29
  3491. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:infants occasionally mistaken as having down syndrome
    n1=en:incidence of 1 in 250,000 births | n2=en:infants occasionally mistaken as having down syndrome | rel=r_associated | relid=0 | w=29
  3492. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:infections may precipitate ketotic episodes
    n1=en:incidence of 1 in 250,000 births | n2=en:infections may precipitate ketotic episodes | rel=r_associated | relid=0 | w=29
  3493. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:intermittent pyrexia
    n1=en:incidence of 1 in 250,000 births | n2=en:intermittent pyrexia | rel=r_associated | relid=0 | w=29
  3494. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:intolerant of heat
    n1=en:incidence of 1 in 250,000 births | n2=en:intolerant of heat | rel=r_associated | relid=0 | w=29
  3495. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:late adult onset (after age 55 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:late adult onset (after age 55 years) | rel=r_associated | relid=0 | w=29
  3496. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:late-adult onset (range 50 to 80 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:late-adult onset (range 50 to 80 years) | rel=r_associated | relid=0 | w=29
  3497. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:late-adult onset (usually after age 50 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:late-adult onset (usually after age 50 years) | rel=r_associated | relid=0 | w=29
  3498. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:later onset associated with milder severity has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:later onset associated with milder severity has been reported | rel=r_associated | relid=0 | w=29
  3499. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:later onset is associated with slower progression and lesser severity
    n1=en:incidence of 1 in 250,000 births | n2=en:later onset is associated with slower progression and lesser severity | rel=r_associated | relid=0 | w=29
  3500. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:later onset of optic atrophy (mean 19 years, range 5 to 50 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:later onset of optic atrophy (mean 19 years, range 5 to 50 years) | rel=r_associated | relid=0 | w=29
  3501. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:leigh syndrome, x-linked
    n1=en:incidence of 1 in 250,000 births | n2=en:leigh syndrome, x-linked | rel=r_associated | relid=0 | w=29
  3502. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:lifetime risk of ovarian cancer in mutation carriers is 40 to 50%
    n1=en:incidence of 1 in 250,000 births | n2=en:lifetime risk of ovarian cancer in mutation carriers is 40 to 50% | rel=r_associated | relid=0 | w=29
  3503. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:limb malformations are variable
    n1=en:incidence of 1 in 250,000 births | n2=en:limb malformations are variable | rel=r_associated | relid=0 | w=29
  3504. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:linked to 10q24 trisomy
    n1=en:incidence of 1 in 250,000 births | n2=en:linked to 10q24 trisomy | rel=r_associated | relid=0 | w=29
  3505. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:liveborn often die within first week of life
    n1=en:incidence of 1 in 250,000 births | n2=en:liveborn often die within first week of life | rel=r_associated | relid=0 | w=29
  3506. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:long duration
    n1=en:incidence of 1 in 250,000 births | n2=en:long duration | rel=r_associated | relid=0 | w=29
  3507. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:loss of ambulation within 10 years of onset
    n1=en:incidence of 1 in 250,000 births | n2=en:loss of ambulation within 10 years of onset | rel=r_associated | relid=0 | w=29
  3508. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:loss of independent walking by teenage years (in some)
    n1=en:incidence of 1 in 250,000 births | n2=en:loss of independent walking by teenage years (in some) | rel=r_associated | relid=0 | w=29
  3509. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:majority of cases (95%) are sporadic
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of cases (95%) are sporadic | rel=r_associated | relid=0 | w=29
  3510. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:majority of cases are male
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of cases are male | rel=r_associated | relid=0 | w=29
  3511. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:majority of cases are sporadic, often in tall, thin men
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of cases are sporadic, often in tall, thin men | rel=r_associated | relid=0 | w=29
  3512. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:majority of cases have bilateral involvement
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of cases have bilateral involvement | rel=r_associated | relid=0 | w=29
  3513. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:majority of patients are pyridoxine-responsive
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of patients are pyridoxine-responsive | rel=r_associated | relid=0 | w=29
  3514. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:majority of patients die in neonatal period secondary to respiratory insufficiency
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of patients die in neonatal period secondary to respiratory insufficiency | rel=r_associated | relid=0 | w=29
  3515. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:males are more severely affected than females
    n1=en:incidence of 1 in 250,000 births | n2=en:males are more severely affected than females | rel=r_associated | relid=0 | w=29
  3516. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:males more affected than females (2 to 2.5:1)
    n1=en:incidence of 1 in 250,000 births | n2=en:males more affected than females (2 to 2.5:1) | rel=r_associated | relid=0 | w=29
  3517. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:marked heterogeneity
    n1=en:incidence of 1 in 250,000 births | n2=en:marked heterogeneity | rel=r_associated | relid=0 | w=29
  3518. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:maternal anticipation bias
    n1=en:incidence of 1 in 250,000 births | n2=en:maternal anticipation bias | rel=r_associated | relid=0 | w=29
  3519. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:may be associated with polymorphisms in some surfactant genes, including sftpa1 (178630), sftpb (178640), and sftpc (178620)
    n1=en:incidence of 1 in 250,000 births | 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=29
  3520. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:may be lethal if untreated
    n1=en:incidence of 1 in 250,000 births | n2=en:may be lethal if untreated | rel=r_associated | relid=0 | w=29
  3521. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:may be lethal in the neonatal period
    n1=en:incidence of 1 in 250,000 births | n2=en:may be lethal in the neonatal period | rel=r_associated | relid=0 | w=29
  3522. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders
    n1=en:incidence of 1 in 250,000 births | n2=en:may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders | rel=r_associated | relid=0 | w=29
  3523. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:may fade with age
    n1=en:incidence of 1 in 250,000 births | n2=en:may fade with age | rel=r_associated | relid=0 | w=29
  3524. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:may or may not be responsive to pyridoxine (vitamin b6) treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:may or may not be responsive to pyridoxine (vitamin b6) treatment | rel=r_associated | relid=0 | w=29
  3525. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:may present in infancy with episodes of severe metabolic decompensation
    n1=en:incidence of 1 in 250,000 births | n2=en:may present in infancy with episodes of severe metabolic decompensation | rel=r_associated | relid=0 | w=29
  3526. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:mean age at onset 10.6 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset 10.6 years | rel=r_associated | relid=0 | w=29
  3527. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:mean age at onset 46.5 years (range 19-64)
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset 46.5 years (range 19-64) | rel=r_associated | relid=0 | w=29
  3528. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:mean age at onset 5 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset 5 years | rel=r_associated | relid=0 | w=29
  3529. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:mean age at onset is 10.4 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset is 10.4 years | rel=r_associated | relid=0 | w=29
  3530. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:mean age of onset 31 years (range 5-60)
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age of onset 31 years (range 5-60) | rel=r_associated | relid=0 | w=29
  3531. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:mean age of onset in third decade
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age of onset in third decade | rel=r_associated | relid=0 | w=29
  3532. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:median age at onset is 21 years
    n1=en:incidence of 1 in 250,000 births | n2=en:median age at onset is 21 years | rel=r_associated | relid=0 | w=29
  3533. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:median age of onset of pancytopenia - 10 years (range 1-32 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:median age of onset of pancytopenia - 10 years (range 1-32 years) | rel=r_associated | relid=0 | w=29
  3534. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:median life expectancy, 13.4 years
    n1=en:incidence of 1 in 250,000 births | n2=en:median life expectancy, 13.4 years | rel=r_associated | relid=0 | w=29
  3535. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:mild disease course
    n1=en:incidence of 1 in 250,000 births | n2=en:mild disease course | rel=r_associated | relid=0 | w=29
  3536. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:mildly progressive
    n1=en:incidence of 1 in 250,000 births | n2=en:mildly progressive | rel=r_associated | relid=0 | w=29
  3537. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:more common in females
    n1=en:incidence of 1 in 250,000 births | n2=en:more common in females | rel=r_associated | relid=0 | w=29
  3538. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:more frequent in females
    n1=en:incidence of 1 in 250,000 births | n2=en:more frequent in females | rel=r_associated | relid=0 | w=29
  3539. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:most affected patients die in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:most affected patients die in childhood | rel=r_associated | relid=0 | w=29
  3540. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:most cases are caused by mutation in the phox2b gene
    n1=en:incidence of 1 in 250,000 births | n2=en:most cases are caused by mutation in the phox2b gene | rel=r_associated | relid=0 | w=29
  3541. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported | rel=r_associated | relid=0 | w=29
  3542. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:most common cancer in men aged 15-40 years
    n1=en:incidence of 1 in 250,000 births | n2=en:most common cancer in men aged 15-40 years | rel=r_associated | relid=0 | w=29
  3543. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases)
    n1=en:incidence of 1 in 250,000 births | n2=en:most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases) | rel=r_associated | relid=0 | w=29
  3544. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:most common form of porphyria
    n1=en:incidence of 1 in 250,000 births | n2=en:most common form of porphyria | rel=r_associated | relid=0 | w=29
  3545. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:most patients are severely affected
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients are severely affected | rel=r_associated | relid=0 | w=29
  3546. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:most patients become wheelchair-bound in adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients become wheelchair-bound in adolescence | rel=r_associated | relid=0 | w=29
  3547. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:most patients die in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients die in childhood | rel=r_associated | relid=0 | w=29
  3548. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:most patients die in early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients die in early childhood | rel=r_associated | relid=0 | w=29
  3549. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:most patients die of renal failure in early adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients die of renal failure in early adulthood | rel=r_associated | relid=0 | w=29
  3550. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:most retain independent ambulation
    n1=en:incidence of 1 in 250,000 births | n2=en:most retain independent ambulation | rel=r_associated | relid=0 | w=29
  3551. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:mother who carries the mutation is clinically unaffected
    n1=en:incidence of 1 in 250,000 births | n2=en:mother who carries the mutation is clinically unaffected | rel=r_associated | relid=0 | w=29
  3552. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:motor impairment more significant than sensory impairment
    n1=en:incidence of 1 in 250,000 births | n2=en:motor impairment more significant than sensory impairment | rel=r_associated | relid=0 | w=29
  3553. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:multiple gene loci involved in causation of schizophrenia
    n1=en:incidence of 1 in 250,000 births | n2=en:multiple gene loci involved in causation of schizophrenia | rel=r_associated | relid=0 | w=29
  3554. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:multiple seizures daily at onset
    n1=en:incidence of 1 in 250,000 births | n2=en:multiple seizures daily at onset | rel=r_associated | relid=0 | w=29
  3555. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:nail changes may be intermittent in some patients
    n1=en:incidence of 1 in 250,000 births | n2=en:nail changes may be intermittent in some patients | rel=r_associated | relid=0 | w=29
  3556. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:neonatal or infant death
    n1=en:incidence of 1 in 250,000 births | n2=en:neonatal or infant death | rel=r_associated | relid=0 | w=29
  3557. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:neonatal/infantile death in most patients
    n1=en:incidence of 1 in 250,000 births | n2=en:neonatal/infantile death in most patients | rel=r_associated | relid=0 | w=29
  3558. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:neuroendocrine recovery occurs in some patients
    n1=en:incidence of 1 in 250,000 births | n2=en:neuroendocrine recovery occurs in some patients | rel=r_associated | relid=0 | w=29
  3559. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:neurologic signs are present in the neonatal period only
    n1=en:incidence of 1 in 250,000 births | n2=en:neurologic signs are present in the neonatal period only | rel=r_associated | relid=0 | w=29
  3560. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:night blindness from early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:night blindness from early childhood | rel=r_associated | relid=0 | w=29
  3561. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:no clinical details provided by the authors
    n1=en:incidence of 1 in 250,000 births | n2=en:no clinical details provided by the authors | rel=r_associated | relid=0 | w=29
  3562. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:no skeletal abnormalities in odontohypophosphatasia
    n1=en:incidence of 1 in 250,000 births | n2=en:no skeletal abnormalities in odontohypophosphatasia | rel=r_associated | relid=0 | w=29
  3563. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:nonsyndromic
    n1=en:incidence of 1 in 250,000 births | n2=en:nonsyndromic | rel=r_associated | relid=0 | w=29
  3564. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:normal alleles contain up to 30 repeats
    n1=en:incidence of 1 in 250,000 births | n2=en:normal alleles contain up to 30 repeats | rel=r_associated | relid=0 | w=29
  3565. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:normal at birth
    n1=en:incidence of 1 in 250,000 births | n2=en:normal at birth | rel=r_associated | relid=0 | w=29
  3566. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:normal development between episodes
    n1=en:incidence of 1 in 250,000 births | n2=en:normal development between episodes | rel=r_associated | relid=0 | w=29
  3567. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:normal development until onset of seizures
    n1=en:incidence of 1 in 250,000 births | n2=en:normal development until onset of seizures | rel=r_associated | relid=0 | w=29
  3568. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:normal intelligence in majority
    n1=en:incidence of 1 in 250,000 births | n2=en:normal intelligence in majority | rel=r_associated | relid=0 | w=29
  3569. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:nphp shows autosomal recessive inheritance
    n1=en:incidence of 1 in 250,000 births | n2=en:nphp shows autosomal recessive inheritance | rel=r_associated | relid=0 | w=29
  3570. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:occurs in full-term infants
    n1=en:incidence of 1 in 250,000 births | n2=en:occurs in full-term infants | rel=r_associated | relid=0 | w=29
  3571. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:occurs most often among black africans
    n1=en:incidence of 1 in 250,000 births | n2=en:occurs most often among black africans | rel=r_associated | relid=0 | w=29
  3572. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:often results in death in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:often results in death in childhood | rel=r_associated | relid=0 | w=29
  3573. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:often unilateral involvement
    n1=en:incidence of 1 in 250,000 births | n2=en:often unilateral involvement | rel=r_associated | relid=0 | w=29
  3574. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:one 4-generation caucasian italian family with a heterozygous crybb3 mutation has been reported (last curated august 2014)
    n1=en:incidence of 1 in 250,000 births | 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=29
  3575. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:one 5-generation acc family with mutation in bms1 has been described (last curated august 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one 5-generation acc family with mutation in bms1 has been described (last curated august 2014) | rel=r_associated | relid=0 | w=29
  3576. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:one amish family has been reported (last curated july 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one amish family has been reported (last curated july 2014) | rel=r_associated | relid=0 | w=29
  3577. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:one chinese family with 14 affected individuals has been described (last curated february 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one chinese family with 14 affected individuals has been described (last curated february 2014) | rel=r_associated | relid=0 | w=29
  3578. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:one consanguineous caucasian united kingdom family has been reported (last curated january 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:one consanguineous caucasian united kingdom family has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=29
  3579. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:one consanguineous pakistani reported (last curated july 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:one consanguineous pakistani reported (last curated july 2015) | rel=r_associated | relid=0 | w=29
  3580. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:one family and 1 unrelated patient have been reported (last curated january 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family and 1 unrelated patient have been reported (last curated january 2011) | rel=r_associated | relid=0 | w=29
  3581. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:one family had normal cognitive and neurologic development
    n1=en:incidence of 1 in 250,000 births | n2=en:one family had normal cognitive and neurologic development | rel=r_associated | relid=0 | w=29
  3582. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:one family has been reported (as of curation date may, 2013) onset in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (as of curation date may, 2013) onset in infancy | rel=r_associated | relid=0 | w=29
  3583. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:one family has been reported (last curated december 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (last curated december 2013) | rel=r_associated | relid=0 | w=29
  3584. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:one family has been reported (last curated october 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (last curated october 2012) | rel=r_associated | relid=0 | w=29
  3585. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:one family reported with mutation in a heterozygous mutation in dlx5 (last curated october 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family reported with mutation in a heterozygous mutation in dlx5 (last curated october 2014) | rel=r_associated | relid=0 | w=29
  3586. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:one family with 2 affected fetuses has been reported (as of august 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family with 2 affected fetuses has been reported (as of august 2011) | rel=r_associated | relid=0 | w=29
  3587. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015) | rel=r_associated | relid=0 | w=29
  3588. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:one korean family has been reported (as of november 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:one korean family has been reported (as of november 2011) | rel=r_associated | relid=0 | w=29
  3589. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:one pakistani family has been reported (last curated october 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one pakistani family has been reported (last curated october 2012) | rel=r_associated | relid=0 | w=29
  3590. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:one patient has been reported (as of august 2010)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient has been reported (as of august 2010) | rel=r_associated | relid=0 | w=29
  3591. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:one patient has been reported (last curated january 2010)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient has been reported (last curated january 2010) | rel=r_associated | relid=0 | w=29
  3592. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:one patient with normal psychomotor development has been reported (last curated december 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient with normal psychomotor development has been reported (last curated december 2012) | rel=r_associated | relid=0 | w=29
  3593. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:only women have been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:only women have been reported | rel=r_associated | relid=0 | w=29
  3594. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset 14 months to 4 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset 14 months to 4 years of age | rel=r_associated | relid=0 | w=29
  3595. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset 23 to 30 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset 23 to 30 years | rel=r_associated | relid=0 | w=29
  3596. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset 30-40 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset 30-40 years of age | rel=r_associated | relid=0 | w=29
  3597. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset 6 months to 2.5 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset 6 months to 2.5 years | rel=r_associated | relid=0 | w=29
  3598. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset 6 to 12 months
    n1=en:incidence of 1 in 250,000 births | n2=en:onset 6 to 12 months | rel=r_associated | relid=0 | w=29
  3599. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset 6 to 30 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset 6 to 30 years | rel=r_associated | relid=0 | w=29
  3600. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset age 14-28 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset age 14-28 years | rel=r_associated | relid=0 | w=29
  3601. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset age 32 to 45 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset age 32 to 45 years | rel=r_associated | relid=0 | w=29
  3602. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset and diagnosis may occur later (after age 20 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset and diagnosis may occur later (after age 20 years) | rel=r_associated | relid=0 | w=29
  3603. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset at 6-36 hours of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset at 6-36 hours of life | rel=r_associated | relid=0 | w=29
  3604. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset at age 5 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset at age 5 years | rel=r_associated | relid=0 | w=29
  3605. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset at day 1 of life has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:onset at day 1 of life has been reported | rel=r_associated | relid=0 | w=29
  3606. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset before adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:onset before adolescence | rel=r_associated | relid=0 | w=29
  3607. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset between 2 and 4 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between 2 and 4 years of age | rel=r_associated | relid=0 | w=29
  3608. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset between 6 and 15 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between 6 and 15 years | rel=r_associated | relid=0 | w=29
  3609. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset between age 30-50 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between age 30-50 years | rel=r_associated | relid=0 | w=29
  3610. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset between ages 1 to 3 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between ages 1 to 3 years | rel=r_associated | relid=0 | w=29
  3611. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset between ages 16-55
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between ages 16-55 | rel=r_associated | relid=0 | w=29
  3612. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset by 3 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset by 3 years of age | rel=r_associated | relid=0 | w=29
  3613. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset early in first decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset early in first decade | rel=r_associated | relid=0 | w=29
  3614. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset in adolescence or adulthood has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in adolescence or adulthood has been reported | rel=r_associated | relid=0 | w=29
  3615. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset in early childhood to puberty
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in early childhood to puberty | rel=r_associated | relid=0 | w=29
  3616. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset in early to late childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in early to late childhood | rel=r_associated | relid=0 | w=29
  3617. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset in feet and legs (peroneal distribution)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in feet and legs (peroneal distribution) | rel=r_associated | relid=0 | w=29
  3618. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset in first 2 decades of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in first 2 decades of life | rel=r_associated | relid=0 | w=29
  3619. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset in first decade (birth to 6 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in first decade (birth to 6 years) | rel=r_associated | relid=0 | w=29
  3620. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset in first decades (males)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in first decades (males) | rel=r_associated | relid=0 | w=29
  3621. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset in first few years of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in first few years of life | rel=r_associated | relid=0 | w=29
  3622. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset in first month of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in first month of life | rel=r_associated | relid=0 | w=29
  3623. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset in first weeks or months of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in first weeks or months of life | rel=r_associated | relid=0 | w=29
  3624. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset in fourth and fifth decades
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in fourth and fifth decades | rel=r_associated | relid=0 | w=29
  3625. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset in late teens to twenties
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in late teens to twenties | rel=r_associated | relid=0 | w=29
  3626. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset in neonatal period or infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in neonatal period or infancy | rel=r_associated | relid=0 | w=29
  3627. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset in second decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in second decade | rel=r_associated | relid=0 | w=29
  3628. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset in the first few months of life patients may need lifelong total parenteral nutrition
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in the first few months of life patients may need lifelong total parenteral nutrition | rel=r_associated | relid=0 | w=29
  3629. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset in the first or second decades of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in the first or second decades of life | rel=r_associated | relid=0 | w=29
  3630. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset in the sixth or seventh decades
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in the sixth or seventh decades | rel=r_associated | relid=0 | w=29
  3631. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset in utero or at birth
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in utero or at birth | rel=r_associated | relid=0 | w=29
  3632. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset may be precipitated by viral infection, reye-like episode following ingestion of aspirin
    n1=en:incidence of 1 in 250,000 births | n2=en:onset may be precipitated by viral infection, reye-like episode following ingestion of aspirin | rel=r_associated | relid=0 | w=29
  3633. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset may be prelingual or in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset may be prelingual or in childhood | rel=r_associated | relid=0 | w=29
  3634. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset of bone disease in second decade (range 18-44 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of bone disease in second decade (range 18-44 years) | rel=r_associated | relid=0 | w=29
  3635. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset of cataracts in late adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of cataracts in late adolescence | rel=r_associated | relid=0 | w=29
  3636. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset of dilated cardiomyopathy less than 3 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of dilated cardiomyopathy less than 3 years | rel=r_associated | relid=0 | w=29
  3637. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset of disease 3-30 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of disease 3-30 years | rel=r_associated | relid=0 | w=29
  3638. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset of disease 3-8 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of disease 3-8 years | rel=r_associated | relid=0 | w=29
  3639. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset of febrile seizures typically between 6 months and 6 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of febrile seizures typically between 6 months and 6 years of age | rel=r_associated | relid=0 | w=29
  3640. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset of hearing loss in adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of hearing loss in adolescence | rel=r_associated | relid=0 | w=29
  3641. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset of hypoglycemia and hyperinsulinism in the neonatal period
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of hypoglycemia and hyperinsulinism in the neonatal period | rel=r_associated | relid=0 | w=29
  3642. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset of mild symptoms in first or second decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of mild symptoms in first or second decade | rel=r_associated | relid=0 | w=29
  3643. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset of muscle weakness in fifth decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of muscle weakness in fifth decade | rel=r_associated | relid=0 | w=29
  3644. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset of renal dysfunction in early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of renal dysfunction in early childhood | rel=r_associated | relid=0 | w=29
  3645. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset of seizures before age 2 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of seizures before age 2 years | rel=r_associated | relid=0 | w=29
  3646. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset of seizures between 8 and 11 months of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of seizures between 8 and 11 months of age | rel=r_associated | relid=0 | w=29
  3647. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset of seizures between 9 and 12 months of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of seizures between 9 and 12 months of age | rel=r_associated | relid=0 | w=29
  3648. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset of seizures ranges from 2 to 11 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of seizures ranges from 2 to 11 years | rel=r_associated | relid=0 | w=29
  3649. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset of sleep terrors between age 4 and 12 years old
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of sleep terrors between age 4 and 12 years old | rel=r_associated | relid=0 | w=29
  3650. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset of symptoms 2-12 months
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of symptoms 2-12 months | rel=r_associated | relid=0 | w=29
  3651. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset of symptoms 2-4 weeks of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of symptoms 2-4 weeks of age | rel=r_associated | relid=0 | w=29
  3652. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset of visual loss in childhood (around age 5 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of visual loss in childhood (around age 5 years) | rel=r_associated | relid=0 | w=29
  3653. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset ranges from childhood (severe phenotype) to adulthood (limited phenotype)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset ranges from childhood (severe phenotype) to adulthood (limited phenotype) | rel=r_associated | relid=0 | w=29
  3654. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset usually associated with febrile illness
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually associated with febrile illness | rel=r_associated | relid=0 | w=29
  3655. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset usually in first month of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in first month of life | rel=r_associated | relid=0 | w=29
  3656. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset usually in late infancy or childhood (1 to 6 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in late infancy or childhood (1 to 6 years) | rel=r_associated | relid=0 | w=29
  3657. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset usually in second decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in second decade | rel=r_associated | relid=0 | w=29
  3658. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset usually in second decade (may occur earlier)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in second decade (may occur earlier) | rel=r_associated | relid=0 | w=29
  3659. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset usually in the first decade (range 0.8 to 5 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in the first decade (range 0.8 to 5 years) | rel=r_associated | relid=0 | w=29
  3660. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset usually in third or fourth decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in third or fourth decade | rel=r_associated | relid=0 | w=29
  3661. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset usually within first weeks of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually within first weeks of life | rel=r_associated | relid=0 | w=29
  3662. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset within first 2 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset within first 2 years | rel=r_associated | relid=0 | w=29
  3663. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:onset within first 6 months of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset within first 6 months of life | rel=r_associated | relid=0 | w=29
  3664. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:oral supplementation with ubiquinone does not result in major clinical improvement
    n1=en:incidence of 1 in 250,000 births | n2=en:oral supplementation with ubiquinone does not result in major clinical improvement | rel=r_associated | relid=0 | w=29
  3665. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:other tumors may also occur
    n1=en:incidence of 1 in 250,000 births | n2=en:other tumors may also occur | rel=r_associated | relid=0 | w=29
  3666. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:other visual functions, including visual acuity, visual field, and color vision, are usually normal in these patients
    n1=en:incidence of 1 in 250,000 births | 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=29
  3667. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder | rel=r_associated | relid=0 | w=29
  3668. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:parietal foramina-2 (pfm2, 609597) are caused by mutations in the alx4 gene (605420)
    n1=en:incidence of 1 in 250,000 births | n2=en:parietal foramina-2 (pfm2, 609597) are caused by mutations in the alx4 gene (605420) | rel=r_associated | relid=0 | w=29
  3669. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:paternal anticipation bias
    n1=en:incidence of 1 in 250,000 births | n2=en:paternal anticipation bias | rel=r_associated | relid=0 | w=29
  3670. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:pathogenic alleles contain 52 to 86 repeats
    n1=en:incidence of 1 in 250,000 births | n2=en:pathogenic alleles contain 52 to 86 repeats | rel=r_associated | relid=0 | w=29
  3671. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:patient with factor ix leyden variants (see, e.g., 300746.0001) have bleeding in childhood that improves or resolves after puberty
    n1=en:incidence of 1 in 250,000 births | 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=29
  3672. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:patient with truncating mutations are more likely to develop neurologic abnormalities
    n1=en:incidence of 1 in 250,000 births | n2=en:patient with truncating mutations are more likely to develop neurologic abnormalities | rel=r_associated | relid=0 | w=29
  3673. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:patients between 30 and 60 years have discomfort with prolonged standing
    n1=en:incidence of 1 in 250,000 births | n2=en:patients between 30 and 60 years have discomfort with prolonged standing | rel=r_associated | relid=0 | w=29
  3674. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:patients develop aortic dissection with little or no aortic enlargement
    n1=en:incidence of 1 in 250,000 births | n2=en:patients develop aortic dissection with little or no aortic enlargement | rel=r_associated | relid=0 | w=29
  3675. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:patients have a distinctive shallow u-shaped audiogram
    n1=en:incidence of 1 in 250,000 births | n2=en:patients have a distinctive shallow u-shaped audiogram | rel=r_associated | relid=0 | w=29
  3676. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:patients have no abnormalities of hair, teeth, or bone
    n1=en:incidence of 1 in 250,000 births | n2=en:patients have no abnormalities of hair, teeth, or bone | rel=r_associated | relid=0 | w=29
  3677. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:patients have severe anemia requiring regular transfusions for normal activity
    n1=en:incidence of 1 in 250,000 births | n2=en:patients have severe anemia requiring regular transfusions for normal activity | rel=r_associated | relid=0 | w=29
  3678. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:patients may become wheelchair-bound
    n1=en:incidence of 1 in 250,000 births | n2=en:patients may become wheelchair-bound | rel=r_associated | relid=0 | w=29
  3679. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:patients may have a combination phenotype of pmc and hypp (see 603967.0005)
    n1=en:incidence of 1 in 250,000 births | n2=en:patients may have a combination phenotype of pmc and hypp (see 603967.0005) | rel=r_associated | relid=0 | w=29
  3680. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:patients need support with walking or are wheelchair-bound
    n1=en:incidence of 1 in 250,000 births | n2=en:patients need support with walking or are wheelchair-bound | rel=r_associated | relid=0 | w=29
  3681. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:patients walk on tips of toes with dorsal foot deviated laterally
    n1=en:incidence of 1 in 250,000 births | n2=en:patients walk on tips of toes with dorsal foot deviated laterally | rel=r_associated | relid=0 | w=29
  3682. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:patients with glaucoma have nonsense or truncating sbf2 mutations (607697.0002)
    n1=en:incidence of 1 in 250,000 births | n2=en:patients with glaucoma have nonsense or truncating sbf2 mutations (607697.0002) | rel=r_associated | relid=0 | w=29
  3683. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:patients with the autosomal recessive disorder have a more severe phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:patients with the autosomal recessive disorder have a more severe phenotype | rel=r_associated | relid=0 | w=29
  3684. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> 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:incidence of 1 in 250,000 births | 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=29
  3685. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:phenotype is classically defined as aplasia cutis and transverse limb defects
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotype is classically defined as aplasia cutis and transverse limb defects | rel=r_associated | relid=0 | w=29
  3686. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:phenotypic overlap with parkinson disease
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic overlap with parkinson disease | rel=r_associated | relid=0 | w=29
  3687. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> 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:incidence of 1 in 250,000 births | 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=29
  3688. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:phenotypic variation in severity and symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic variation in severity and symptoms | rel=r_associated | relid=0 | w=29
  3689. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:poor response to acetylcholinesterase inhibitors
    n1=en:incidence of 1 in 250,000 births | n2=en:poor response to acetylcholinesterase inhibitors | rel=r_associated | relid=0 | w=29
  3690. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:poor response to levodopa treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:poor response to levodopa treatment | rel=r_associated | relid=0 | w=29
  3691. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:precipitated by fatigue or alcohol
    n1=en:incidence of 1 in 250,000 births | n2=en:precipitated by fatigue or alcohol | rel=r_associated | relid=0 | w=29
  3692. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:precipitated by mechanical compression or pressure on nerve
    n1=en:incidence of 1 in 250,000 births | n2=en:precipitated by mechanical compression or pressure on nerve | rel=r_associated | relid=0 | w=29
  3693. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:prenatal diagnosis by ultrasound
    n1=en:incidence of 1 in 250,000 births | n2=en:prenatal diagnosis by ultrasound | rel=r_associated | relid=0 | w=29
  3694. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:prenatal onset or onset in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:prenatal onset or onset in infancy | rel=r_associated | relid=0 | w=29
  3695. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:presentation after 6 months
    n1=en:incidence of 1 in 250,000 births | n2=en:presentation after 6 months | rel=r_associated | relid=0 | w=29
  3696. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:prevalence estimated at 1 in 50,000
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence estimated at 1 in 50,000 | rel=r_associated | relid=0 | w=29
  3697. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:prevalence of 1 in 10,000 african-americans
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 1 in 10,000 african-americans | rel=r_associated | relid=0 | w=29
  3698. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:prevalence of 1 in 100,000
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 1 in 100,000 | rel=r_associated | relid=0 | w=29
  3699. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:prevalence of essential tremor ranges from 0.4 to 6% in the general population
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of essential tremor ranges from 0.4 to 6% in the general population | rel=r_associated | relid=0 | w=29
  3700. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:prevalence rates average 10-20% of the general population over age 60
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence rates average 10-20% of the general population over age 60 | rel=r_associated | relid=0 | w=29
  3701. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:prevalent in sweden
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalent in sweden | rel=r_associated | relid=0 | w=29
  3702. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:progression of the disorder is precipitated by viral symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:progression of the disorder is precipitated by viral symptoms | rel=r_associated | relid=0 | w=29
  3703. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:progressive disorder, usually with rapid, relentless course
    n1=en:incidence of 1 in 250,000 births | n2=en:progressive disorder, usually with rapid, relentless course | rel=r_associated | relid=0 | w=29
  3704. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:progressive neurologic deterioration if untreated
    n1=en:incidence of 1 in 250,000 births | n2=en:progressive neurologic deterioration if untreated | rel=r_associated | relid=0 | w=29
  3705. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:progressive sclerosis with age
    n1=en:incidence of 1 in 250,000 births | n2=en:progressive sclerosis with age | rel=r_associated | relid=0 | w=29
  3706. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:range of onset 11 to 50 years
    n1=en:incidence of 1 in 250,000 births | n2=en:range of onset 11 to 50 years | rel=r_associated | relid=0 | w=29
  3707. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:rapidly progressive
    n1=en:incidence of 1 in 250,000 births | n2=en:rapidly progressive | rel=r_associated | relid=0 | w=29
  3708. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:rare spontaneous improvement occurs (8%)
    n1=en:incidence of 1 in 250,000 births | n2=en:rare spontaneous improvement occurs (8%) | rel=r_associated | relid=0 | w=29
  3709. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:ratio female to male, 19:10 in index family
    n1=en:incidence of 1 in 250,000 births | n2=en:ratio female to male, 19:10 in index family | rel=r_associated | relid=0 | w=29
  3710. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:recurrence of symptoms after cholecystectomy
    n1=en:incidence of 1 in 250,000 births | n2=en:recurrence of symptoms after cholecystectomy | rel=r_associated | relid=0 | w=29
  3711. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:relatively benign course
    n1=en:incidence of 1 in 250,000 births | n2=en:relatively benign course | rel=r_associated | relid=0 | w=29
  3712. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:relatively mild course
    n1=en:incidence of 1 in 250,000 births | n2=en:relatively mild course | rel=r_associated | relid=0 | w=29
  3713. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:repeat is unstable if > 52 repeats
    n1=en:incidence of 1 in 250,000 births | n2=en:repeat is unstable if > 52 repeats | rel=r_associated | relid=0 | w=29
  3714. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:reported in 1 family (last curated may 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:reported in 1 family (last curated may 2013) | rel=r_associated | relid=0 | w=29
  3715. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:respiratory distress may be precipitated by viral respiratory infection
    n1=en:incidence of 1 in 250,000 births | n2=en:respiratory distress may be precipitated by viral respiratory infection | rel=r_associated | relid=0 | w=29
  3716. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:retinal arteriolar tortuosity develops in adolescence and is progressive
    n1=en:incidence of 1 in 250,000 births | n2=en:retinal arteriolar tortuosity develops in adolescence and is progressive | rel=r_associated | relid=0 | w=29
  3717. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:sando (607459) is a phenotypic variant of autosomal recessive peo
    n1=en:incidence of 1 in 250,000 births | n2=en:sando (607459) is a phenotypic variant of autosomal recessive peo | rel=r_associated | relid=0 | w=29
  3718. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:see (608328) for a phenotypically similar autosomal dominant form
    n1=en:incidence of 1 in 250,000 births | n2=en:see (608328) for a phenotypically similar autosomal dominant form | rel=r_associated | relid=0 | w=29
  3719. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:see 171060.0005 for patients with homozygous abcb4 mutations and unaffected heterozygous family members
    n1=en:incidence of 1 in 250,000 births | n2=en:see 171060.0005 for patients with homozygous abcb4 mutations and unaffected heterozygous family members | rel=r_associated | relid=0 | w=29
  3720. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:see also autosomal dominant form (176860)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also autosomal dominant form (176860) | rel=r_associated | relid=0 | w=29
  3721. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:see also autosomal recessive bh4-dependent hyperphenylalaninemia (233910), an allelic disorder with a more severe phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:see also autosomal recessive bh4-dependent hyperphenylalaninemia (233910), an allelic disorder with a more severe phenotype | rel=r_associated | relid=0 | w=29
  3722. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:see also autosomal recessive form (255700), which is more common and more severe
    n1=en:incidence of 1 in 250,000 births | n2=en:see also autosomal recessive form (255700), which is more common and more severe | rel=r_associated | relid=0 | w=29
  3723. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:see also autosomal recessive peob (258450)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also autosomal recessive peob (258450) | rel=r_associated | relid=0 | w=29
  3724. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:see also benign neonatal epilepsy (ebn1, 121200)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also benign neonatal epilepsy (ebn1, 121200) | rel=r_associated | relid=0 | w=29
  3725. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:see also gaucher disease type iii (231000), which is much less severe
    n1=en:incidence of 1 in 250,000 births | n2=en:see also gaucher disease type iii (231000), which is much less severe | rel=r_associated | relid=0 | w=29
  3726. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:see also glut1ds2 (612126), an allelic disorder with a less severe phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:see also glut1ds2 (612126), an allelic disorder with a less severe phenotype | rel=r_associated | relid=0 | w=29
  3727. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:see also oca1a (203100)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also oca1a (203100) | rel=r_associated | relid=0 | w=29
  3728. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:see also optic atrophy 1 (165500), an allelic disorder without deafness
    n1=en:incidence of 1 in 250,000 births | n2=en:see also optic atrophy 1 (165500), an allelic disorder without deafness | rel=r_associated | relid=0 | w=29
  3729. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:see also the x-linked form (300291)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also the x-linked form (300291) | rel=r_associated | relid=0 | w=29
  3730. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:see also x-linked edmd (310300)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also x-linked edmd (310300) | rel=r_associated | relid=0 | w=29
  3731. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:see the more common methemoglobinemia types i and ii (250800)
    n1=en:incidence of 1 in 250,000 births | n2=en:see the more common methemoglobinemia types i and ii (250800) | rel=r_associated | relid=0 | w=29
  3732. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:seizures are refractory to medication
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures are refractory to medication | rel=r_associated | relid=0 | w=29
  3733. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:seizures may improve with age
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures may improve with age | rel=r_associated | relid=0 | w=29
  3734. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:service comment 06:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=29
  3735. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:service comment 15:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=29
  3736. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:service comment 21:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=29
  3737. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:service comment 28:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=29
  3738. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:service comment 34:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=29
  3739. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:service comment 56:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=29
  3740. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:service comment 58:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=29
  3741. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:service comment 60:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=29
  3742. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:seven patients reported (as of march 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:seven patients reported (as of march 2011) | rel=r_associated | relid=0 | w=29
  3743. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:severity of skin symptoms may vary within families
    n1=en:incidence of 1 in 250,000 births | n2=en:severity of skin symptoms may vary within families | rel=r_associated | relid=0 | w=29
  3744. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:sex ratio of 4-4.5 males to 1 female
    n1=en:incidence of 1 in 250,000 births | n2=en:sex ratio of 4-4.5 males to 1 female | rel=r_associated | relid=0 | w=29
  3745. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:similar clinical features to edsi (130000) but less severe
    n1=en:incidence of 1 in 250,000 births | n2=en:similar clinical features to edsi (130000) but less severe | rel=r_associated | relid=0 | w=29
  3746. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:similar phenotype to juvenile neuronal ceroid lipofuscinosis 3 (cln3, 204200)
    n1=en:incidence of 1 in 250,000 births | n2=en:similar phenotype to juvenile neuronal ceroid lipofuscinosis 3 (cln3, 204200) | rel=r_associated | relid=0 | w=29
  3747. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:similar to spondylometaphyseal dysplasia, type a4 (609052) but without anterior tonguing of vertebrae
    n1=en:incidence of 1 in 250,000 births | n2=en:similar to spondylometaphyseal dysplasia, type a4 (609052) but without anterior tonguing of vertebrae | rel=r_associated | relid=0 | w=29
  3748. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:single mitochondrial dna deletions are found in sporadic kss patients
    n1=en:incidence of 1 in 250,000 births | n2=en:single mitochondrial dna deletions are found in sporadic kss patients | rel=r_associated | relid=0 | w=29
  3749. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:six patients from 1 saudi arabian family have been reported (last curated december 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:six patients from 1 saudi arabian family have been reported (last curated december 2011) | rel=r_associated | relid=0 | w=29
  3750. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:smaller repeat lengths in younger generations (reverse anticipation)
    n1=en:incidence of 1 in 250,000 births | n2=en:smaller repeat lengths in younger generations (reverse anticipation) | rel=r_associated | relid=0 | w=29
  3751. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:some features occur in adolescence, including migraine, seizures, and psychiatric disorders
    n1=en:incidence of 1 in 250,000 births | n2=en:some features occur in adolescence, including migraine, seizures, and psychiatric disorders | rel=r_associated | relid=0 | w=29
  3752. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:some females have only deafness and ovarian dysgenesis without neurologic abnormalities
    n1=en:incidence of 1 in 250,000 births | n2=en:some females have only deafness and ovarian dysgenesis without neurologic abnormalities | rel=r_associated | relid=0 | w=29
  3753. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:some heterozygous cpt2 mutation carriers may be symptomatic
    n1=en:incidence of 1 in 250,000 births | n2=en:some heterozygous cpt2 mutation carriers may be symptomatic | rel=r_associated | relid=0 | w=29
  3754. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:some patients do not have bone disease
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients do not have bone disease | rel=r_associated | relid=0 | w=29
  3755. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:some patients have additional neurologic involvement
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients have additional neurologic involvement | rel=r_associated | relid=0 | w=29
  3756. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:some patients may be asymptomatic
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may be asymptomatic | rel=r_associated | relid=0 | w=29
  3757. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:some patients may die from cardiomyopathy in the first or second decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may die from cardiomyopathy in the first or second decade of life | rel=r_associated | relid=0 | w=29
  3758. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:some patients may have normal development until onset of seizures in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may have normal development until onset of seizures in infancy | rel=r_associated | relid=0 | w=29
  3759. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:some patients may present with transient neonatal hypotonia, and then later develop classic pmc in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may present with transient neonatal hypotonia, and then later develop classic pmc in childhood | rel=r_associated | relid=0 | w=29
  3760. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:some patients report increased tolerance to heat
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients report increased tolerance to heat | rel=r_associated | relid=0 | w=29
  3761. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:some patients respond to acetazolamide
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients respond to acetazolamide | rel=r_associated | relid=0 | w=29
  3762. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:some patients show infantile onset
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients show infantile onset | rel=r_associated | relid=0 | w=29
  3763. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:some patients survive infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients survive infancy | rel=r_associated | relid=0 | w=29
  3764. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:sparing of some nails in some individuals
    n1=en:incidence of 1 in 250,000 births | n2=en:sparing of some nails in some individuals | rel=r_associated | relid=0 | w=29
  3765. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:stokes-adams syndrome
    n1=en:incidence of 1 in 250,000 births | n2=en:stokes-adams syndrome | rel=r_associated | relid=0 | w=29
  3766. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:symptoms may be precipitated by infection
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms may be precipitated by infection | rel=r_associated | relid=0 | w=29
  3767. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:symptoms noted at 2-3 years
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms noted at 2-3 years | rel=r_associated | relid=0 | w=29
  3768. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:symptoms of zinc deficiency occur only in exclusively breastfed infants
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms of zinc deficiency occur only in exclusively breastfed infants | rel=r_associated | relid=0 | w=29
  3769. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:symptoms often decrease or remit with age
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms often decrease or remit with age | rel=r_associated | relid=0 | w=29
  3770. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:symptoms show insidious onset in the late first through third decades
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms show insidious onset in the late first through third decades | rel=r_associated | relid=0 | w=29
  3771. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:symptoms tend to improve with age
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms tend to improve with age | rel=r_associated | relid=0 | w=29
  3772. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:symptoms usually manifest in childhood including waddling gait and painful, stiff joints
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms usually manifest in childhood including waddling gait and painful, stiff joints | rel=r_associated | relid=0 | w=29
  3773. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:the characteristic changes in the spine resolve by adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:the characteristic changes in the spine resolve by adolescence | rel=r_associated | relid=0 | w=29
  3774. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> 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:incidence of 1 in 250,000 births | 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=29
  3775. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=29
  3776. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:three patients have been described (last curated january 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:three patients have been described (last curated january 2013) | rel=r_associated | relid=0 | w=29
  3777. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:three patients have been reported (as of august 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:three patients have been reported (as of august 2011) | rel=r_associated | relid=0 | w=29
  3778. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:three patients have been reported (as of february 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:three patients have been reported (as of february 2012) | rel=r_associated | relid=0 | w=29
  3779. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic)
    n1=en:incidence of 1 in 250,000 births | n2=en:three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic) | rel=r_associated | relid=0 | w=29
  3780. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:three type of cystinosis are recognized - infantile nephropathic (219800), juvenile or adolescent nephropathic (219900), and adult nonnephropathic (219750)
    n1=en:incidence of 1 in 250,000 births | 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=29
  3781. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:thyroid gland carcinoma
    n1=en:incidence of 1 in 250,000 births | n2=en:thyroid gland carcinoma | rel=r_associated | relid=0 | w=29
  3782. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:tremor is aggravated by emotional stress
    n1=en:incidence of 1 in 250,000 births | n2=en:tremor is aggravated by emotional stress | rel=r_associated | relid=0 | w=29
  3783. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:triggered by minor head trauma
    n1=en:incidence of 1 in 250,000 births | n2=en:triggered by minor head trauma | rel=r_associated | relid=0 | w=29
  3784. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:tumor suppressor gene
    n1=en:incidence of 1 in 250,000 births | n2=en:tumor suppressor gene | rel=r_associated | relid=0 | w=29
  3785. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:twenty-five percent of affected babies are stillborn
    n1=en:incidence of 1 in 250,000 births | n2=en:twenty-five percent of affected babies are stillborn | rel=r_associated | relid=0 | w=29
  3786. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:two arab muslim families have been reported (last curated october 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two arab muslim families have been reported (last curated october 2012) | rel=r_associated | relid=0 | w=29
  3787. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:two families have been reported (last curated december 2010)
    n1=en:incidence of 1 in 250,000 births | n2=en:two families have been reported (last curated december 2010) | rel=r_associated | relid=0 | w=29
  3788. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:two families of canadian origin have been reported (last curated may 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two families of canadian origin have been reported (last curated may 2012) | rel=r_associated | relid=0 | w=29
  3789. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:two families reported (last curated august 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two families reported (last curated august 2014) | rel=r_associated | relid=0 | w=29
  3790. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:two families reported (last curated february 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:two families reported (last curated february 2013) | rel=r_associated | relid=0 | w=29
  3791. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:two patients have been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:two patients have been reported | rel=r_associated | relid=0 | w=29
  3792. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:two sibs have been reported (as of august 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:two sibs have been reported (as of august 2011) | rel=r_associated | relid=0 | w=29
  3793. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:two sibs have been reported (last curated november 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two sibs have been reported (last curated november 2012) | rel=r_associated | relid=0 | w=29
  3794. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:two types - one with premature ovarian failure (bpes type 1) and one without pof (bpes type 2)
    n1=en:incidence of 1 in 250,000 births | 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=29
  3795. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:two unrelated consanguineous families have been reported (last curated january 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated consanguineous families have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=29
  3796. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:two unrelated families have been reported (as of october 2010)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated families have been reported (as of october 2010) | rel=r_associated | relid=0 | w=29
  3797. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:two unrelated families have been reported (last curated february 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated families have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=29
  3798. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:two unrelated families have been reported (last curated november 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated families have been reported (last curated november 2013) | rel=r_associated | relid=0 | w=29
  3799. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:two unrelated patients have been reported (last curated march 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients have been reported (last curated march 2014) | rel=r_associated | relid=0 | w=29
  3800. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:typically no physical features of albright hereditary osteodystrophy (aho)
    n1=en:incidence of 1 in 250,000 births | n2=en:typically no physical features of albright hereditary osteodystrophy (aho) | rel=r_associated | relid=0 | w=29
  3801. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:uncommon disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:uncommon disorder | rel=r_associated | relid=0 | w=29
  3802. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:upper limb involvement usually occurs later
    n1=en:incidence of 1 in 250,000 births | n2=en:upper limb involvement usually occurs later | rel=r_associated | relid=0 | w=29
  3803. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:usher syndrome type i (congenital profound deafness, absent vestibular function, and prepubertal onset of retinitis pigmentosa) - 7 loci
    n1=en:incidence of 1 in 250,000 births | 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=29
  3804. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:usually fatal
    n1=en:incidence of 1 in 250,000 births | n2=en:usually fatal | rel=r_associated | relid=0 | w=29
  3805. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:usually sporadic, but 1-2% of cases are familial
    n1=en:incidence of 1 in 250,000 births | n2=en:usually sporadic, but 1-2% of cases are familial | rel=r_associated | relid=0 | w=29
  3806. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:variable age at onset (childhood to adult)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (childhood to adult) | rel=r_associated | relid=0 | w=29
  3807. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:variable age at onset (range 15 to 60 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (range 15 to 60 years) | rel=r_associated | relid=0 | w=29
  3808. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:variable age at onset (range childhood to late adult)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (range childhood to late adult) | rel=r_associated | relid=0 | w=29
  3809. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:variable age at onset (range teens to late adult)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (range teens to late adult) | rel=r_associated | relid=0 | w=29
  3810. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:variable age at onset, ranging from childhood to adult
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset, ranging from childhood to adult | rel=r_associated | relid=0 | w=29
  3811. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:variable age of onset (infancy to 63 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age of onset (infancy to 63 years) | rel=r_associated | relid=0 | w=29
  3812. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:variable clinical features
    n1=en:incidence of 1 in 250,000 births | n2=en:variable clinical features | rel=r_associated | relid=0 | w=29
  3813. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:variable dysmorphic features
    n1=en:incidence of 1 in 250,000 births | n2=en:variable dysmorphic features | rel=r_associated | relid=0 | w=29
  3814. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:variable features
    n1=en:incidence of 1 in 250,000 births | n2=en:variable features | rel=r_associated | relid=0 | w=29
  3815. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:variable frequency and duration of episodes
    n1=en:incidence of 1 in 250,000 births | n2=en:variable frequency and duration of episodes | rel=r_associated | relid=0 | w=29
  3816. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:variable number of nails involved
    n1=en:incidence of 1 in 250,000 births | n2=en:variable number of nails involved | rel=r_associated | relid=0 | w=29
  3817. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:variable severity (in patients with hsan2d)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable severity (in patients with hsan2d) | rel=r_associated | relid=0 | w=29
  3818. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:vhl type 2a - hemangioblastoma and pheochromocytoma
    n1=en:incidence of 1 in 250,000 births | n2=en:vhl type 2a - hemangioblastoma and pheochromocytoma | rel=r_associated | relid=0 | w=29
  3819. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:visual impairment is present at birth and is progressive
    n1=en:incidence of 1 in 250,000 births | n2=en:visual impairment is present at birth and is progressive | rel=r_associated | relid=0 | w=29
  3820. en:incidence of 1 in 250,000 births -- r_associated #0: 29 / 0.674 -> en:wide phenotypic variation
    n1=en:incidence of 1 in 250,000 births | n2=en:wide phenotypic variation | rel=r_associated | relid=0 | w=29
  3821. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:12% due to epimutation
    n1=en:incidence of 1 in 250,000 births | n2=en:12% due to epimutation | rel=r_associated | relid=0 | w=28
  3822. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:20-40% patients are asymptomatic
    n1=en:incidence of 1 in 250,000 births | n2=en:20-40% patients are asymptomatic | rel=r_associated | relid=0 | w=28
  3823. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:21% of hereditary wilms tumor are bilateral
    n1=en:incidence of 1 in 250,000 births | n2=en:21% of hereditary wilms tumor are bilateral | rel=r_associated | relid=0 | w=28
  3824. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:3 reported cases, 1 pedigree of affected sibs, neither parent affected
    n1=en:incidence of 1 in 250,000 births | n2=en:3 reported cases, 1 pedigree of affected sibs, neither parent affected | rel=r_associated | relid=0 | w=28
  3825. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:78% due to chromosome 14 maternal uniparental disomy
    n1=en:incidence of 1 in 250,000 births | n2=en:78% due to chromosome 14 maternal uniparental disomy | rel=r_associated | relid=0 | w=28
  3826. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:98% of finnish cases due to one mutation
    n1=en:incidence of 1 in 250,000 births | n2=en:98% of finnish cases due to one mutation | rel=r_associated | relid=0 | w=28
  3827. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:a second family had mild intellectual disability
    n1=en:incidence of 1 in 250,000 births | n2=en:a second family had mild intellectual disability | rel=r_associated | relid=0 | w=28
  3828. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:about 25% of cases due to new mutations
    n1=en:incidence of 1 in 250,000 births | n2=en:about 25% of cases due to new mutations | rel=r_associated | relid=0 | w=28
  3829. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:accounts for 5-15% of childhood epilepsies
    n1=en:incidence of 1 in 250,000 births | n2=en:accounts for 5-15% of childhood epilepsies | rel=r_associated | relid=0 | w=28
  3830. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:acquired autoimmune disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:acquired autoimmune disorder | rel=r_associated | relid=0 | w=28
  3831. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease
    n1=en:incidence of 1 in 250,000 births | n2=en:acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease | rel=r_associated | relid=0 | w=28
  3832. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:acquired protein c deficiency seen in liver disease, dic, and following surgery
    n1=en:incidence of 1 in 250,000 births | n2=en:acquired protein c deficiency seen in liver disease, dic, and following surgery | rel=r_associated | relid=0 | w=28
  3833. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:acquired sporadic disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:acquired sporadic disorder | rel=r_associated | relid=0 | w=28
  3834. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:adult onset - 100-1,000 repeats
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset - 100-1,000 repeats | rel=r_associated | relid=0 | w=28
  3835. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:adult onset (25-45 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (25-45 years) | rel=r_associated | relid=0 | w=28
  3836. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:adult onset (mean age 37 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (mean age 37 years) | rel=r_associated | relid=0 | w=28
  3837. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:adult onset (range 34 to 66 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (range 34 to 66 years) | rel=r_associated | relid=0 | w=28
  3838. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:adult onset (sixth decade)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (sixth decade) | rel=r_associated | relid=0 | w=28
  3839. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:adult onset of neurologic symptoms has been reported in 1 family
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset of neurologic symptoms has been reported in 1 family | rel=r_associated | relid=0 | w=28
  3840. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:affected individuals have amnesia for events
    n1=en:incidence of 1 in 250,000 births | n2=en:affected individuals have amnesia for events | rel=r_associated | relid=0 | w=28
  3841. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:affected infants often die in utero or in the postnatal period
    n1=en:incidence of 1 in 250,000 births | n2=en:affected infants often die in utero or in the postnatal period | rel=r_associated | relid=0 | w=28
  3842. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:age at death:time:point in time:^patient:quantitative
    n1=en:incidence of 1 in 250,000 births | n2=en:age at death:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=28
  3843. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:age at diagnosis 28 +/- 18 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age at diagnosis 28 +/- 18 years | rel=r_associated | relid=0 | w=28
  3844. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:age at diagnosis of cataract may range up to 40 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age at diagnosis of cataract may range up to 40 years | rel=r_associated | relid=0 | w=28
  3845. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:age at onset 3 to 23 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age at onset 3 to 23 years | rel=r_associated | relid=0 | w=28
  3846. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:age at onset in females ranges from childhood to the fourth decade
    n1=en:incidence of 1 in 250,000 births | n2=en:age at onset in females ranges from childhood to the fourth decade | rel=r_associated | relid=0 | w=28
  3847. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:age of onset 36 to 55 years (mean 47)
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset 36 to 55 years (mean 47) | rel=r_associated | relid=0 | w=28
  3848. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:age of onset between 20 to 30 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset between 20 to 30 years | rel=r_associated | relid=0 | w=28
  3849. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:age of onset ranges from infancy to young adulthood (6 months-19 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset ranges from infancy to young adulthood (6 months-19 years) | rel=r_associated | relid=0 | w=28
  3850. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:age of onset within the first years of life
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset within the first years of life | rel=r_associated | relid=0 | w=28
  3851. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:age-related clinical course
    n1=en:incidence of 1 in 250,000 births | n2=en:age-related clinical course | rel=r_associated | relid=0 | w=28
  3852. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:age:time:pt:^egg donor:qn
    n1=en:incidence of 1 in 250,000 births | n2=en:age:time:pt:^egg donor:qn | rel=r_associated | relid=0 | w=28
  3853. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:all patients have duplication of at least the crebbp gene (600140)
    n1=en:incidence of 1 in 250,000 births | n2=en:all patients have duplication of at least the crebbp gene (600140) | rel=r_associated | relid=0 | w=28
  3854. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:allelic disorder to autosomal dominant form (129490)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to autosomal dominant form (129490) | rel=r_associated | relid=0 | w=28
  3855. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:allelic disorder to autosomal recessive deafness 21 (dfnb21, 603629)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to autosomal recessive deafness 21 (dfnb21, 603629) | rel=r_associated | relid=0 | w=28
  3856. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:allelic disorder to autosomal recessive hearing loss (dfnb2, 600060) and usher syndrome type ib (276900)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to autosomal recessive hearing loss (dfnb2, 600060) and usher syndrome type ib (276900) | rel=r_associated | relid=0 | w=28
  3857. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:allelic disorder to cmt4a (214400)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to cmt4a (214400) | rel=r_associated | relid=0 | w=28
  3858. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:allelic disorder to ebs dowling-meara (131760), ebs koebner (131900), and ebs weber-cockayne (131800)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to ebs dowling-meara (131760), ebs koebner (131900), and ebs weber-cockayne (131800) | rel=r_associated | relid=0 | w=28
  3859. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:allelic disorder to hyperkalemic periodic paralysis (hypp, 608390)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to hyperkalemic periodic paralysis (hypp, 608390) | rel=r_associated | relid=0 | w=28
  3860. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:allelic disorder to ifap syndrome (308205)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to ifap syndrome (308205) | rel=r_associated | relid=0 | w=28
  3861. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:allelic disorder to infantile-onset ascending spastic paralysis (iahsp, 607225)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to infantile-onset ascending spastic paralysis (iahsp, 607225) | rel=r_associated | relid=0 | w=28
  3862. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:allelic disorder to intrahepatic cholestasis of pregnancy (icp, 147480)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to intrahepatic cholestasis of pregnancy (icp, 147480) | rel=r_associated | relid=0 | w=28
  3863. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:allelic disorder to limb-mammary syndrome (lms, 603543)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to limb-mammary syndrome (lms, 603543) | rel=r_associated | relid=0 | w=28
  3864. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:allelic disorder to long qt syndrome-1 (lqt1, 192500)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to long qt syndrome-1 (lqt1, 192500) | rel=r_associated | relid=0 | w=28
  3865. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:allelic disorder to margarita island type of ectodermal dysplasia (225060)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to margarita island type of ectodermal dysplasia (225060) | rel=r_associated | relid=0 | w=28
  3866. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, 610217)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, 610217) | rel=r_associated | relid=0 | w=28
  3867. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, 211600)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, 211600) | rel=r_associated | relid=0 | w=28
  3868. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:allelic disorder to rippling muscle disease (rmd, 606072)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to rippling muscle disease (rmd, 606072) | rel=r_associated | relid=0 | w=28
  3869. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:allelic disorders with overlapping phenotypes include hereditary lymphedema type ii (153200), lymphedema and ptosis (153000), and the lymphedema-distichiasis syndrome (153400)
    n1=en:incidence of 1 in 250,000 births | 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=28
  3870. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:allelic to grebe syndrome (200700), brachydactyly, type c (113100), fibular hypoplasia and complex brachydactyly (228900)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to grebe syndrome (200700), brachydactyly, type c (113100), fibular hypoplasia and complex brachydactyly (228900) | rel=r_associated | relid=0 | w=28
  3871. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:allelic to leprechaunism (246200) and insulin-resistant diabetes mellitus with acanthosis nigricans (147670)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to leprechaunism (246200) and insulin-resistant diabetes mellitus with acanthosis nigricans (147670) | rel=r_associated | relid=0 | w=28
  3872. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:allelic to may-heglin anomaly (155100), sebastian syndrome (605249), epstein syndrome (153650), and deafness, autosomal dominant 17 (603622)
    n1=en:incidence of 1 in 250,000 births | 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=28
  3873. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:allelic to mevalonic aciduria (610377)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to mevalonic aciduria (610377) | rel=r_associated | relid=0 | w=28
  3874. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:allelic to osmed (215150) and weissenbacher-zweymuller syndrome (277610)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to osmed (215150) and weissenbacher-zweymuller syndrome (277610) | rel=r_associated | relid=0 | w=28
  3875. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:allelic to papillon-lefevre syndrome (245000) and haim-munk syndrome (245010)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to papillon-lefevre syndrome (245000) and haim-munk syndrome (245010) | rel=r_associated | relid=0 | w=28
  3876. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:allelic to rett syndrome (312750)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to rett syndrome (312750) | rel=r_associated | relid=0 | w=28
  3877. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:allelic to roberts syndrome (268300)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to roberts syndrome (268300) | rel=r_associated | relid=0 | w=28
  3878. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:allelic to the less severe harp syndrome (607236), which is distinguished by the presence of hypobetalipoproteinemia and acanthocytosis
    n1=en:incidence of 1 in 250,000 births | 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=28
  3879. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200) | rel=r_associated | relid=0 | w=28
  3880. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:alpha thalassemia-mental retardation syndrome
    n1=en:incidence of 1 in 250,000 births | n2=en:alpha thalassemia-mental retardation syndrome | rel=r_associated | relid=0 | w=28
  3881. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:antenatal onset
    n1=en:incidence of 1 in 250,000 births | n2=en:antenatal onset | rel=r_associated | relid=0 | w=28
  3882. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:approximately 85% of type ii patients are homozygous for a missense mutation m136t (102600.0003)
    n1=en:incidence of 1 in 250,000 births | n2=en:approximately 85% of type ii patients are homozygous for a missense mutation m136t (102600.0003) | rel=r_associated | relid=0 | w=28
  3883. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:associated with increased frequency of autoimmune diseases
    n1=en:incidence of 1 in 250,000 births | n2=en:associated with increased frequency of autoimmune diseases | rel=r_associated | relid=0 | w=28
  3884. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:associated with iron deficiency anemia
    n1=en:incidence of 1 in 250,000 births | n2=en:associated with iron deficiency anemia | rel=r_associated | relid=0 | w=28
  3885. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:associated with malignant hyperthermia (mhs, 145600)
    n1=en:incidence of 1 in 250,000 births | n2=en:associated with malignant hyperthermia (mhs, 145600) | rel=r_associated | relid=0 | w=28
  3886. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:associated with the tau (157140) h1 haplotype
    n1=en:incidence of 1 in 250,000 births | n2=en:associated with the tau (157140) h1 haplotype | rel=r_associated | relid=0 | w=28
  3887. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:association with the hla-drb1*1501-dqb1*0602 haplotype has been repeatedly demonstrated in high-risk (northern european) populations.
    n1=en:incidence of 1 in 250,000 births | 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=28
  3888. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:ataxia is slowly progressive
    n1=en:incidence of 1 in 250,000 births | n2=en:ataxia is slowly progressive | rel=r_associated | relid=0 | w=28
  3889. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:autonomic symptoms occur with headaches
    n1=en:incidence of 1 in 250,000 births | n2=en:autonomic symptoms occur with headaches | rel=r_associated | relid=0 | w=28
  3890. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:autosomal dominant omodysplasia has also been described (164745)
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal dominant omodysplasia has also been described (164745) | rel=r_associated | relid=0 | w=28
  3891. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:autosomal dominant with complete penetrance
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal dominant with complete penetrance | rel=r_associated | relid=0 | w=28
  3892. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:autosomal recessive (177000.0006)
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal recessive (177000.0006) | rel=r_associated | relid=0 | w=28
  3893. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:autosomal recessive cytochrome b-positive cgd, type ii (233710)
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal recessive cytochrome b-positive cgd, type ii (233710) | rel=r_associated | relid=0 | w=28
  3894. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:autosomal recessive form (240220)
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal recessive form (240220) | rel=r_associated | relid=0 | w=28
  3895. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:autosomal recessive inheritance has been reported in 1 case
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal recessive inheritance has been reported in 1 case | rel=r_associated | relid=0 | w=28
  3896. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:average age at death is 37 years
    n1=en:incidence of 1 in 250,000 births | n2=en:average age at death is 37 years | rel=r_associated | relid=0 | w=28
  3897. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:average age at diagnosis 17.8 years (range 2-35 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:average age at diagnosis 17.8 years (range 2-35 years) | rel=r_associated | relid=0 | w=28
  3898. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:average age at onset 18 years (range 15 to 25 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:average age at onset 18 years (range 15 to 25 years) | rel=r_associated | relid=0 | w=28
  3899. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:based on 3 patients from 2 families (last curated january 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on 3 patients from 2 families (last curated january 2015) | rel=r_associated | relid=0 | w=28
  3900. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:based on 4 reported patients (last curated april 2013) repeated first-trimester abortions in mothers of 2 probands
    n1=en:incidence of 1 in 250,000 births | 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=28
  3901. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:based on report of 2 consanguineous arab families (last curated november 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on report of 2 consanguineous arab families (last curated november 2014) | rel=r_associated | relid=0 | w=28
  3902. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:benign trait
    n1=en:incidence of 1 in 250,000 births | n2=en:benign trait | rel=r_associated | relid=0 | w=28
  3903. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:benign, asymptomatic defect
    n1=en:incidence of 1 in 250,000 births | n2=en:benign, asymptomatic defect | rel=r_associated | relid=0 | w=28
  3904. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:birth date:time stamp -- date and time:point in time:^patient:quantitative
    n1=en:incidence of 1 in 250,000 births | n2=en:birth date:time stamp -- date and time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=28
  3905. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:blindness episodes are not associated with fhm episodes
    n1=en:incidence of 1 in 250,000 births | n2=en:blindness episodes are not associated with fhm episodes | rel=r_associated | relid=0 | w=28
  3906. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:blood glucose monitor with integrated lancing/blood sample
    n1=en:incidence of 1 in 250,000 births | n2=en:blood glucose monitor with integrated lancing/blood sample | rel=r_associated | relid=0 | w=28
  3907. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:both homozygous and heterozygous edn3 mutations have been found
    n1=en:incidence of 1 in 250,000 births | n2=en:both homozygous and heterozygous edn3 mutations have been found | rel=r_associated | relid=0 | w=28
  3908. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:both homozygous and heterozygous mutations in lrsam1 have been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:both homozygous and heterozygous mutations in lrsam1 have been reported | rel=r_associated | relid=0 | w=28
  3909. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:carrier females are unaffected
    n1=en:incidence of 1 in 250,000 births | n2=en:carrier females are unaffected | rel=r_associated | relid=0 | w=28
  3910. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:carrier females may show mild features, such as mild contractures, club feet, and intellectual disability
    n1=en:incidence of 1 in 250,000 births | n2=en:carrier females may show mild features, such as mild contractures, club feet, and intellectual disability | rel=r_associated | relid=0 | w=28
  3911. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:carrier frequency 1:1,000 in french-canadians in quebec
    n1=en:incidence of 1 in 250,000 births | n2=en:carrier frequency 1:1,000 in french-canadians in quebec | rel=r_associated | relid=0 | w=28
  3912. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:carrier frequency 1:200,000 in france
    n1=en:incidence of 1 in 250,000 births | n2=en:carrier frequency 1:200,000 in france | rel=r_associated | relid=0 | w=28
  3913. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:central hypoventilation occurs late in the disease and is often fatal
    n1=en:incidence of 1 in 250,000 births | n2=en:central hypoventilation occurs late in the disease and is often fatal | rel=r_associated | relid=0 | w=28
  3914. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:childhood onset has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:childhood onset has been reported | rel=r_associated | relid=0 | w=28
  3915. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:childhood or young adult onset
    n1=en:incidence of 1 in 250,000 births | n2=en:childhood or young adult onset | rel=r_associated | relid=0 | w=28
  3916. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:clinically unaffected heterozygotes may show changes on electroretinography
    n1=en:incidence of 1 in 250,000 births | n2=en:clinically unaffected heterozygotes may show changes on electroretinography | rel=r_associated | relid=0 | w=28
  3917. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:complete absence of melanin synthesis
    n1=en:incidence of 1 in 250,000 births | n2=en:complete absence of melanin synthesis | rel=r_associated | relid=0 | w=28
  3918. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:cone-shaped epiphyses usually not present before age 2 years
    n1=en:incidence of 1 in 250,000 births | n2=en:cone-shaped epiphyses usually not present before age 2 years | rel=r_associated | relid=0 | w=28
  3919. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:considered a myeloproliferative disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:considered a myeloproliferative disorder | rel=r_associated | relid=0 | w=28
  3920. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:considered to be a manifestation of the caudal regression syndrome
    n1=en:incidence of 1 in 250,000 births | n2=en:considered to be a manifestation of the caudal regression syndrome | rel=r_associated | relid=0 | w=28
  3921. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis
    n1=en:incidence of 1 in 250,000 births | n2=en:d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis | rel=r_associated | relid=0 | w=28
  3922. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:date ultrasound:date:pt:^patient:qn
    n1=en:incidence of 1 in 250,000 births | n2=en:date ultrasound:date:pt:^patient:qn | rel=r_associated | relid=0 | w=28
  3923. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:death before age 3 years
    n1=en:incidence of 1 in 250,000 births | n2=en:death before age 3 years | rel=r_associated | relid=0 | w=28
  3924. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:death can occur in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:death can occur in infancy | rel=r_associated | relid=0 | w=28
  3925. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:death frequent in severe infantile form
    n1=en:incidence of 1 in 250,000 births | n2=en:death frequent in severe infantile form | rel=r_associated | relid=0 | w=28
  3926. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:death often in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:death often in infancy | rel=r_associated | relid=0 | w=28
  3927. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:death usually in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:death usually in childhood | rel=r_associated | relid=0 | w=28
  3928. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:death usually in the perinatal period
    n1=en:incidence of 1 in 250,000 births | n2=en:death usually in the perinatal period | rel=r_associated | relid=0 | w=28
  3929. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:death usually occurs before 5th decade
    n1=en:incidence of 1 in 250,000 births | n2=en:death usually occurs before 5th decade | rel=r_associated | relid=0 | w=28
  3930. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:death usually within first 2 years of life
    n1=en:incidence of 1 in 250,000 births | n2=en:death usually within first 2 years of life | rel=r_associated | relid=0 | w=28
  3931. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:death within 6 years after onset
    n1=en:incidence of 1 in 250,000 births | n2=en:death within 6 years after onset | rel=r_associated | relid=0 | w=28
  3932. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:defect in urocanic acid conversion to formiminoglutamic acid (figlu)
    n1=en:incidence of 1 in 250,000 births | n2=en:defect in urocanic acid conversion to formiminoglutamic acid (figlu) | rel=r_associated | relid=0 | w=28
  3933. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:described in 3 unrelated infants (last curated january 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:described in 3 unrelated infants (last curated january 2013) | rel=r_associated | relid=0 | w=28
  3934. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:described in 6 japanese families
    n1=en:incidence of 1 in 250,000 births | n2=en:described in 6 japanese families | rel=r_associated | relid=0 | w=28
  3935. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:disorder is static for first 2 decades and then shows progression of movement disorders and further cognitive decline
    n1=en:incidence of 1 in 250,000 births | 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=28
  3936. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:distinct disorder from acquired limb-girdle myasthenia (159400) and congenital limb-girdle myasthenia (254300)
    n1=en:incidence of 1 in 250,000 births | n2=en:distinct disorder from acquired limb-girdle myasthenia (159400) and congenital limb-girdle myasthenia (254300) | rel=r_associated | relid=0 | w=28
  3937. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:distinct disorder from hereditary neuropathy with liability to pressure palsies (hnpp, 162500)
    n1=en:incidence of 1 in 250,000 births | n2=en:distinct disorder from hereditary neuropathy with liability to pressure palsies (hnpp, 162500) | rel=r_associated | relid=0 | w=28
  3938. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:does not result in renal failure
    n1=en:incidence of 1 in 250,000 births | n2=en:does not result in renal failure | rel=r_associated | relid=0 | w=28
  3939. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures
    n1=en:incidence of 1 in 250,000 births | n2=en:door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures | rel=r_associated | relid=0 | w=28
  3940. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:dystonia is usually focal or segmental
    n1=en:incidence of 1 in 250,000 births | n2=en:dystonia is usually focal or segmental | rel=r_associated | relid=0 | w=28
  3941. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:earlier onset is associated with more rapid progression
    n1=en:incidence of 1 in 250,000 births | n2=en:earlier onset is associated with more rapid progression | rel=r_associated | relid=0 | w=28
  3942. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:earlier onset is rare
    n1=en:incidence of 1 in 250,000 births | n2=en:earlier onset is rare | rel=r_associated | relid=0 | w=28
  3943. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> 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:incidence of 1 in 250,000 births | 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=28
  3944. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:early death (mean age 13 months)
    n1=en:incidence of 1 in 250,000 births | n2=en:early death (mean age 13 months) | rel=r_associated | relid=0 | w=28
  3945. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:early death often due to respiratory complications
    n1=en:incidence of 1 in 250,000 births | n2=en:early death often due to respiratory complications | rel=r_associated | relid=0 | w=28
  3946. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:early death without bone marrow transplantation
    n1=en:incidence of 1 in 250,000 births | n2=en:early death without bone marrow transplantation | rel=r_associated | relid=0 | w=28
  3947. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:early-onset
    n1=en:incidence of 1 in 250,000 births | n2=en:early-onset | rel=r_associated | relid=0 | w=28
  3948. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:electroretinogram reduction as early as 4 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:electroretinogram reduction as early as 4 years of age | rel=r_associated | relid=0 | w=28
  3949. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:elevated afp can be seen in other disorders
    n1=en:incidence of 1 in 250,000 births | n2=en:elevated afp can be seen in other disorders | rel=r_associated | relid=0 | w=28
  3950. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:episodes typically last 2 to 5 minutes and occur daily or several times per month
    n1=en:incidence of 1 in 250,000 births | n2=en:episodes typically last 2 to 5 minutes and occur daily or several times per month | rel=r_associated | relid=0 | w=28
  3951. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:episodes usually last 1 to 2 days
    n1=en:incidence of 1 in 250,000 births | n2=en:episodes usually last 1 to 2 days | rel=r_associated | relid=0 | w=28
  3952. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:estimated frequency 1/2000-1/4000 individuals
    n1=en:incidence of 1 in 250,000 births | n2=en:estimated frequency 1/2000-1/4000 individuals | rel=r_associated | relid=0 | w=28
  3953. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:estimated incidence of 1 in 17,000
    n1=en:incidence of 1 in 250,000 births | n2=en:estimated incidence of 1 in 17,000 | rel=r_associated | relid=0 | w=28
  3954. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:excessive skin picking of sores
    n1=en:incidence of 1 in 250,000 births | n2=en:excessive skin picking of sores | rel=r_associated | relid=0 | w=28
  3955. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:extremely variable phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:extremely variable phenotype | rel=r_associated | relid=0 | w=28
  3956. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:facial dysmorphic features may not be present and may become less apparent in adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:facial dysmorphic features may not be present and may become less apparent in adulthood | rel=r_associated | relid=0 | w=28
  3957. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:favorable response to alcohol
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to alcohol | rel=r_associated | relid=0 | w=28
  3958. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:favorable response to anticholinesterase medication
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to anticholinesterase medication | rel=r_associated | relid=0 | w=28
  3959. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:favorable response to bh4 therapy
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to bh4 therapy | rel=r_associated | relid=0 | w=28
  3960. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:favorable response to l-dopa
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to l-dopa | rel=r_associated | relid=0 | w=28
  3961. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:favoring of fat and protein
    n1=en:incidence of 1 in 250,000 births | n2=en:favoring of fat and protein | rel=r_associated | relid=0 | w=28
  3962. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:features based on one australian/uk family with tmem98 mutation (last curated august 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:features based on one australian/uk family with tmem98 mutation (last curated august 2014) | rel=r_associated | relid=0 | w=28
  3963. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:features of pseudoxanthoma elasticum seen in later childhood in some surviving patients
    n1=en:incidence of 1 in 250,000 births | n2=en:features of pseudoxanthoma elasticum seen in later childhood in some surviving patients | rel=r_associated | relid=0 | w=28
  3964. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:female carriers may be less severely affected
    n1=en:incidence of 1 in 250,000 births | n2=en:female carriers may be less severely affected | rel=r_associated | relid=0 | w=28
  3965. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:female carriers may show intermittent hematuria
    n1=en:incidence of 1 in 250,000 births | n2=en:female carriers may show intermittent hematuria | rel=r_associated | relid=0 | w=28
  3966. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:female to male ratio 8-13:1
    n1=en:incidence of 1 in 250,000 births | n2=en:female to male ratio 8-13:1 | rel=r_associated | relid=0 | w=28
  3967. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:females carriers have more variable age at onset and severity
    n1=en:incidence of 1 in 250,000 births | n2=en:females carriers have more variable age at onset and severity | rel=r_associated | relid=0 | w=28
  3968. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:fish can be used to detect deletions of 4p16.3, the critical region for the phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:fish can be used to detect deletions of 4p16.3, the critical region for the phenotype | rel=r_associated | relid=0 | w=28
  3969. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:five unrelated cases have been reported (as of march 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:five unrelated cases have been reported (as of march 2012) | rel=r_associated | relid=0 | w=28
  3970. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:food intolerance
    n1=en:incidence of 1 in 250,000 births | n2=en:food intolerance | rel=r_associated | relid=0 | w=28
  3971. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:foot deformities are present in infancy or childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:foot deformities are present in infancy or childhood | rel=r_associated | relid=0 | w=28
  3972. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:frequency of attack, monthly - bimonthly
    n1=en:incidence of 1 in 250,000 births | n2=en:frequency of attack, monthly - bimonthly | rel=r_associated | relid=0 | w=28
  3973. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:frequency of attacks may decrease with age or during pregnancy
    n1=en:incidence of 1 in 250,000 births | n2=en:frequency of attacks may decrease with age or during pregnancy | rel=r_associated | relid=0 | w=28
  3974. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:gait disturbance
    n1=en:incidence of 1 in 250,000 births | n2=en:gait disturbance | rel=r_associated | relid=0 | w=28
  3975. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:gapo is acronym for growth retardation, alopecia, pseudoanodontia, optic atrophy
    n1=en:incidence of 1 in 250,000 births | n2=en:gapo is acronym for growth retardation, alopecia, pseudoanodontia, optic atrophy | rel=r_associated | relid=0 | w=28
  3976. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:genetic anticipation has been observed
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic anticipation has been observed | rel=r_associated | relid=0 | w=28
  3977. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see 116800 for summary)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see 116800 for summary) | rel=r_associated | relid=0 | w=28
  3978. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see 125800)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see 125800) | rel=r_associated | relid=0 | w=28
  3979. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see 161800)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see 161800) | rel=r_associated | relid=0 | w=28
  3980. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see 214300)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see 214300) | rel=r_associated | relid=0 | w=28
  3981. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see 604559)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see 604559) | rel=r_associated | relid=0 | w=28
  3982. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see 607634)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see 607634) | rel=r_associated | relid=0 | w=28
  3983. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see 608638)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see 608638) | rel=r_associated | relid=0 | w=28
  3984. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see 609192)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see 609192) | rel=r_associated | relid=0 | w=28
  3985. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see bscl2, 269700)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see bscl2, 269700) | rel=r_associated | relid=0 | w=28
  3986. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see cmt2b2, 605589)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see cmt2b2, 605589) | rel=r_associated | relid=0 | w=28
  3987. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see mks2 603194 and mks3 607361)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see mks2 603194 and mks3 607361) | rel=r_associated | relid=0 | w=28
  3988. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496) | rel=r_associated | relid=0 | w=28
  3989. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity of waardenburg syndrome type 2
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity of waardenburg syndrome type 2 | rel=r_associated | relid=0 | w=28
  3990. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity, see ppnad2 (610475)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity, see ppnad2 (610475) | rel=r_associated | relid=0 | w=28
  3991. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity, see spg5a (270800)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity, see spg5a (270800) | rel=r_associated | relid=0 | w=28
  3992. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity, some patients not linked to fgfr3
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity, some patients not linked to fgfr3 | rel=r_associated | relid=0 | w=28
  3993. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:gliomas may occur in association with other hereditary tumor syndromes (see 276300, 155755, 162200, 101000, 191100)
    n1=en:incidence of 1 in 250,000 births | n2=en:gliomas may occur in association with other hereditary tumor syndromes (see 276300, 155755, 162200, 101000, 191100) | rel=r_associated | relid=0 | w=28
  3994. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:haploinsufficiency of grn (138945)
    n1=en:incidence of 1 in 250,000 births | n2=en:haploinsufficiency of grn (138945) | rel=r_associated | relid=0 | w=28
  3995. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:hearing loss and hoarseness occur later
    n1=en:incidence of 1 in 250,000 births | n2=en:hearing loss and hoarseness occur later | rel=r_associated | relid=0 | w=28
  3996. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:hearing loss is usually severe by age 20 years
    n1=en:incidence of 1 in 250,000 births | n2=en:hearing loss is usually severe by age 20 years | rel=r_associated | relid=0 | w=28
  3997. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:hemolysis may be exercise-induced
    n1=en:incidence of 1 in 250,000 births | n2=en:hemolysis may be exercise-induced | rel=r_associated | relid=0 | w=28
  3998. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:heterozygous carriers have decreased blood pressure compared to the general population
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygous carriers have decreased blood pressure compared to the general population | rel=r_associated | relid=0 | w=28
  3999. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:heterozygous mutation carriers show toxicity to 5-fluorouracil (5fu)
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygous mutation carriers show toxicity to 5-fluorouracil (5fu) | rel=r_associated | relid=0 | w=28
  4000. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:heterozygous, homozygous, and compound heterozygous coq2 mutations have been identified
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygous, homozygous, and compound heterozygous coq2 mutations have been identified | rel=r_associated | relid=0 | w=28
  4001. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:high disease prevalence among french-canadians
    n1=en:incidence of 1 in 250,000 births | n2=en:high disease prevalence among french-canadians | rel=r_associated | relid=0 | w=28
  4002. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:high frequency of absence seizures (several per day)
    n1=en:incidence of 1 in 250,000 births | n2=en:high frequency of absence seizures (several per day) | rel=r_associated | relid=0 | w=28
  4003. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:high incidence in saguenay-lac st. jean region of the province of quebec, canada and northern europe
    n1=en:incidence of 1 in 250,000 births | 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=28
  4004. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:high intrafamilial and interfamilial variability
    n1=en:incidence of 1 in 250,000 births | n2=en:high intrafamilial and interfamilial variability | rel=r_associated | relid=0 | w=28
  4005. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:high pain threshold
    n1=en:incidence of 1 in 250,000 births | n2=en:high pain threshold | rel=r_associated | relid=0 | w=28
  4006. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:highly variable organ involvement and severity
    n1=en:incidence of 1 in 250,000 births | n2=en:highly variable organ involvement and severity | rel=r_associated | relid=0 | w=28
  4007. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:highly variable phenotype in females
    n1=en:incidence of 1 in 250,000 births | n2=en:highly variable phenotype in females | rel=r_associated | relid=0 | w=28
  4008. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:highly variable phenotype with regard to pigmentation
    n1=en:incidence of 1 in 250,000 births | n2=en:highly variable phenotype with regard to pigmentation | rel=r_associated | relid=0 | w=28
  4009. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:highly variable phenotype, some adults may be asymptomatic
    n1=en:incidence of 1 in 250,000 births | n2=en:highly variable phenotype, some adults may be asymptomatic | rel=r_associated | relid=0 | w=28
  4010. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:hip joint replacement often necessary
    n1=en:incidence of 1 in 250,000 births | n2=en:hip joint replacement often necessary | rel=r_associated | relid=0 | w=28
  4011. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:histologic features overlap with henoch-schonlein purpura (hspn)
    n1=en:incidence of 1 in 250,000 births | n2=en:histologic features overlap with henoch-schonlein purpura (hspn) | rel=r_associated | relid=0 | w=28
  4012. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:hyperlipidemia may be partially responsive to fat-restricted diet
    n1=en:incidence of 1 in 250,000 births | n2=en:hyperlipidemia may be partially responsive to fat-restricted diet | rel=r_associated | relid=0 | w=28
  4013. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:hypersensitivity to ionizing radiation
    n1=en:incidence of 1 in 250,000 births | n2=en:hypersensitivity to ionizing radiation | rel=r_associated | relid=0 | w=28
  4014. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:hyponatremia usually associated with gastroenteritis
    n1=en:incidence of 1 in 250,000 births | n2=en:hyponatremia usually associated with gastroenteritis | rel=r_associated | relid=0 | w=28
  4015. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:hypoventilation occurs in the absence of primary neuromuscular, lung, or cardiac disease, or an identifiable brainstem lesion
    n1=en:incidence of 1 in 250,000 births | 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=28
  4016. en:incidence of 1 in 250,000 births -- 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:incidence of 1 in 250,000 births | 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
  4017. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:immunosuppressive therapy may be beneficial
    n1=en:incidence of 1 in 250,000 births | n2=en:immunosuppressive therapy may be beneficial | rel=r_associated | relid=0 | w=28
  4018. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:impaired healing
    n1=en:incidence of 1 in 250,000 births | n2=en:impaired healing | rel=r_associated | relid=0 | w=28
  4019. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:imprinting at 11p15.5
    n1=en:incidence of 1 in 250,000 births | n2=en:imprinting at 11p15.5 | rel=r_associated | relid=0 | w=28
  4020. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:in general, men have more severe disease than women
    n1=en:incidence of 1 in 250,000 births | n2=en:in general, men have more severe disease than women | rel=r_associated | relid=0 | w=28
  4021. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:in some patients, qtc interval is prolonged only during exercise testing
    n1=en:incidence of 1 in 250,000 births | n2=en:in some patients, qtc interval is prolonged only during exercise testing | rel=r_associated | relid=0 | w=28
  4022. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:incidence 1 in 15,000-28,000 births
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence 1 in 15,000-28,000 births | rel=r_associated | relid=0 | w=28
  4023. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:incidence 1-1.5/1,000 live births
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence 1-1.5/1,000 live births | rel=r_associated | relid=0 | w=28
  4024. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:incidence 2-5% of north american children
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence 2-5% of north american children | rel=r_associated | relid=0 | w=28
  4025. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:incidence in united states of 1 in 55,000
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence in united states of 1 in 55,000 | rel=r_associated | relid=0 | w=28
  4026. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:incidence is less than 1 in 70,000 births
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence is less than 1 in 70,000 births | rel=r_associated | relid=0 | w=28
  4027. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:incidence of 1 in 100,000 to 125,000 at birth
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 100,000 to 125,000 at birth | rel=r_associated | relid=0 | w=28
  4028. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:incidence of 1 in 25,000 to 1 in 50,000 newborns
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 25,000 to 1 in 50,000 newborns | rel=r_associated | relid=0 | w=28
  4029. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:incidence of 1 in 3,500 boys
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 3,500 boys | rel=r_associated | relid=0 | w=28
  4030. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:incidence of 1 in 5,000 to 1 in 10,000
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 5,000 to 1 in 10,000 | rel=r_associated | relid=0 | w=28
  4031. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:incidence of 1/100,000 in italy and finland
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1/100,000 in italy and finland | rel=r_associated | relid=0 | w=28
  4032. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:incidence of 4 per million per year
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 4 per million per year | rel=r_associated | relid=0 | w=28
  4033. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:incidence ranges from 1 in 8,500 to 1 in 12,000 births
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence ranges from 1 in 8,500 to 1 in 12,000 births | rel=r_associated | relid=0 | w=28
  4034. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:incomplete penetrance - approximately 50% males and 10% females with a pathogenic mtdna mutation develop the optic neuropathy
    n1=en:incidence of 1 in 250,000 births | 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=28
  4035. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:incomplete penetrance (50%)
    n1=en:incidence of 1 in 250,000 births | n2=en:incomplete penetrance (50%) | rel=r_associated | relid=0 | w=28
  4036. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:incomplete penetrance (as low as 30% in some cases)
    n1=en:incidence of 1 in 250,000 births | n2=en:incomplete penetrance (as low as 30% in some cases) | rel=r_associated | relid=0 | w=28
  4037. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:increased abortuses of homozygous or compound heterozygous fetuses
    n1=en:incidence of 1 in 250,000 births | n2=en:increased abortuses of homozygous or compound heterozygous fetuses | rel=r_associated | relid=0 | w=28
  4038. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:increased frequency in ashkenazi jewish population (1/100 are carriers)
    n1=en:incidence of 1 in 250,000 births | n2=en:increased frequency in ashkenazi jewish population (1/100 are carriers) | rel=r_associated | relid=0 | w=28
  4039. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:increased frequency in vastebotten county in northern sweden and gelenau in southeastern germany
    n1=en:incidence of 1 in 250,000 births | n2=en:increased frequency in vastebotten county in northern sweden and gelenau in southeastern germany | rel=r_associated | relid=0 | w=28
  4040. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan)
    n1=en:incidence of 1 in 250,000 births | n2=en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan) | rel=r_associated | relid=0 | w=28
  4041. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:increased prevalence among the finnish
    n1=en:incidence of 1 in 250,000 births | n2=en:increased prevalence among the finnish | rel=r_associated | relid=0 | w=28
  4042. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:increased susceptibility to bacterial and opportunistic infections, such as pneumocystis carinii
    n1=en:incidence of 1 in 250,000 births | n2=en:increased susceptibility to bacterial and opportunistic infections, such as pneumocystis carinii | rel=r_associated | relid=0 | w=28
  4043. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:inheritance may be x-linked dominant
    n1=en:incidence of 1 in 250,000 births | n2=en:inheritance may be x-linked dominant | rel=r_associated | relid=0 | w=28
  4044. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:inheritance pattern is unclear
    n1=en:incidence of 1 in 250,000 births | n2=en:inheritance pattern is unclear | rel=r_associated | relid=0 | w=28
  4045. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years
    n1=en:incidence of 1 in 250,000 births | 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=28
  4046. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:intermediate levels of factor x in mildly symptomatic heterozygotes
    n1=en:incidence of 1 in 250,000 births | n2=en:intermediate levels of factor x in mildly symptomatic heterozygotes | rel=r_associated | relid=0 | w=28
  4047. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:isolated cases
    n1=en:incidence of 1 in 250,000 births | n2=en:isolated cases | rel=r_associated | relid=0 | w=28
  4048. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:joint replacement often necessary
    n1=en:incidence of 1 in 250,000 births | n2=en:joint replacement often necessary | rel=r_associated | relid=0 | w=28
  4049. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:joint symptoms begin in third or fourth decade
    n1=en:incidence of 1 in 250,000 births | n2=en:joint symptoms begin in third or fourth decade | rel=r_associated | relid=0 | w=28
  4050. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca
    n1=en:incidence of 1 in 250,000 births | n2=en:keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca | rel=r_associated | relid=0 | w=28
  4051. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:later onset with a milder phenotype may also occur
    n1=en:incidence of 1 in 250,000 births | n2=en:later onset with a milder phenotype may also occur | rel=r_associated | relid=0 | w=28
  4052. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:lethal in 40% of patients
    n1=en:incidence of 1 in 250,000 births | n2=en:lethal in 40% of patients | rel=r_associated | relid=0 | w=28
  4053. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:lifelong occurrence
    n1=en:incidence of 1 in 250,000 births | n2=en:lifelong occurrence | rel=r_associated | relid=0 | w=28
  4054. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20%
    n1=en:incidence of 1 in 250,000 births | n2=en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20% | rel=r_associated | relid=0 | w=28
  4055. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:limited clinical information provided on patients with bbs7 mutations
    n1=en:incidence of 1 in 250,000 births | n2=en:limited clinical information provided on patients with bbs7 mutations | rel=r_associated | relid=0 | w=28
  4056. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:loss of ambulation
    n1=en:incidence of 1 in 250,000 births | n2=en:loss of ambulation | rel=r_associated | relid=0 | w=28
  4057. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:loss of independent ambulation in the second decade
    n1=en:incidence of 1 in 250,000 births | n2=en:loss of independent ambulation in the second decade | rel=r_associated | relid=0 | w=28
  4058. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:majority are sporadic cases, affected sibs have been described
    n1=en:incidence of 1 in 250,000 births | n2=en:majority are sporadic cases, affected sibs have been described | rel=r_associated | relid=0 | w=28
  4059. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:majority of individuals are healthy
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of individuals are healthy | rel=r_associated | relid=0 | w=28
  4060. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:male to female ratio 21:8
    n1=en:incidence of 1 in 250,000 births | n2=en:male to female ratio 21:8 | rel=r_associated | relid=0 | w=28
  4061. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:male-to-female ratio, 1.8 to 1
    n1=en:incidence of 1 in 250,000 births | n2=en:male-to-female ratio, 1.8 to 1 | rel=r_associated | relid=0 | w=28
  4062. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:males are more commonly affected than females
    n1=en:incidence of 1 in 250,000 births | n2=en:males are more commonly affected than females | rel=r_associated | relid=0 | w=28
  4063. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:males may be more affected than females
    n1=en:incidence of 1 in 250,000 births | n2=en:males may be more affected than females | rel=r_associated | relid=0 | w=28
  4064. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:manifests in infancy (including neonatal lethal) or childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:manifests in infancy (including neonatal lethal) or childhood | rel=r_associated | relid=0 | w=28
  4065. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:many patients become wheelchair-bound later in life
    n1=en:incidence of 1 in 250,000 births | n2=en:many patients become wheelchair-bound later in life | rel=r_associated | relid=0 | w=28
  4066. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> 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:incidence of 1 in 250,000 births | 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=28
  4067. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals
    n1=en:incidence of 1 in 250,000 births | n2=en:marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals | rel=r_associated | relid=0 | w=28
  4068. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:may be associated with other anomalies (e.g. okihiro syndrome (607323), wildervanck syndrome (314600))
    n1=en:incidence of 1 in 250,000 births | n2=en:may be associated with other anomalies (e.g. okihiro syndrome (607323), wildervanck syndrome (314600)) | rel=r_associated | relid=0 | w=28
  4069. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:may be asymptomatic
    n1=en:incidence of 1 in 250,000 births | n2=en:may be asymptomatic | rel=r_associated | relid=0 | w=28
  4070. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:may be present in asymptomatic adults
    n1=en:incidence of 1 in 250,000 births | n2=en:may be present in asymptomatic adults | rel=r_associated | relid=0 | w=28
  4071. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:may be same entity as elejalde syndrome (256710)
    n1=en:incidence of 1 in 250,000 births | n2=en:may be same entity as elejalde syndrome (256710) | rel=r_associated | relid=0 | w=28
  4072. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:may coexist with autoimmune vitiligo or thyroiditis
    n1=en:incidence of 1 in 250,000 births | n2=en:may coexist with autoimmune vitiligo or thyroiditis | rel=r_associated | relid=0 | w=28
  4073. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:may result in early death
    n1=en:incidence of 1 in 250,000 births | n2=en:may result in early death | rel=r_associated | relid=0 | w=28
  4074. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:may show good response to levodopa
    n1=en:incidence of 1 in 250,000 births | n2=en:may show good response to levodopa | rel=r_associated | relid=0 | w=28
  4075. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:mean age at onset is 13 years (range 6 to 43)
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset is 13 years (range 6 to 43) | rel=r_associated | relid=0 | w=28
  4076. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:mean age at onset of proximal muscle weakness, 31 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset of proximal muscle weakness, 31 years | rel=r_associated | relid=0 | w=28
  4077. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:mean age of onset 20.6 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age of onset 20.6 years | rel=r_associated | relid=0 | w=28
  4078. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:mean age of onset 50.2 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age of onset 50.2 years | rel=r_associated | relid=0 | w=28
  4079. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:mean age of onset, 5 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age of onset, 5 years | rel=r_associated | relid=0 | w=28
  4080. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:mean survival 5 months
    n1=en:incidence of 1 in 250,000 births | n2=en:mean survival 5 months | rel=r_associated | relid=0 | w=28
  4081. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:mecp2 mutations are those found in females with rett syndrome (312750)
    n1=en:incidence of 1 in 250,000 births | n2=en:mecp2 mutations are those found in females with rett syndrome (312750) | rel=r_associated | relid=0 | w=28
  4082. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:median age at diagnosis, 59 years
    n1=en:incidence of 1 in 250,000 births | n2=en:median age at diagnosis, 59 years | rel=r_associated | relid=0 | w=28
  4083. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:mild facial dysmorphism is associated with duplication of the flna gene
    n1=en:incidence of 1 in 250,000 births | n2=en:mild facial dysmorphism is associated with duplication of the flna gene | rel=r_associated | relid=0 | w=28
  4084. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:mild involvement of face and arms
    n1=en:incidence of 1 in 250,000 births | n2=en:mild involvement of face and arms | rel=r_associated | relid=0 | w=28
  4085. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:milder phenotype associated with aberrant function of a single domain of the zeb2 protein rather than complete haploinsufficiency of zeb2
    n1=en:incidence of 1 in 250,000 births | 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=28
  4086. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:miscellaneous
    n1=en:incidence of 1 in 250,000 births | n2=en:miscellaneous | rel=r_associated | relid=0 | w=28
  4087. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:mode of inheritance is unclear, x-linked recessive inheritance could not be ruled out
    n1=en:incidence of 1 in 250,000 births | n2=en:mode of inheritance is unclear, x-linked recessive inheritance could not be ruled out | rel=r_associated | relid=0 | w=28
  4088. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:more common in females (male:female ratio 4:1)
    n1=en:incidence of 1 in 250,000 births | n2=en:more common in females (male:female ratio 4:1) | rel=r_associated | relid=0 | w=28
  4089. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:more common in males
    n1=en:incidence of 1 in 250,000 births | n2=en:more common in males | rel=r_associated | relid=0 | w=28
  4090. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:more prevalent in females
    n1=en:incidence of 1 in 250,000 births | n2=en:more prevalent in females | rel=r_associated | relid=0 | w=28
  4091. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:most case are sporadic
    n1=en:incidence of 1 in 250,000 births | n2=en:most case are sporadic | rel=r_associated | relid=0 | w=28
  4092. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:most cases (98%) caused by expanded trinucleotide repeat (cgg)n in the fmr1 gene (309550.0004)
    n1=en:incidence of 1 in 250,000 births | n2=en:most cases (98%) caused by expanded trinucleotide repeat (cgg)n in the fmr1 gene (309550.0004) | rel=r_associated | relid=0 | w=28
  4093. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:most cases are isolated
    n1=en:incidence of 1 in 250,000 births | n2=en:most cases are isolated | rel=r_associated | relid=0 | w=28
  4094. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:most cases result from de novo mutation or deletion of rai1 (607642)
    n1=en:incidence of 1 in 250,000 births | n2=en:most cases result from de novo mutation or deletion of rai1 (607642) | rel=r_associated | relid=0 | w=28
  4095. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:most common genetic abnormality is a (gaa)n trinucleotide repeat expansion in intron 1 of the fxn gene (606829.0001)
    n1=en:incidence of 1 in 250,000 births | 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=28
  4096. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:most patients become wheelchair-bound in later childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients become wheelchair-bound in later childhood | rel=r_associated | relid=0 | w=28
  4097. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:most patients have no bleeding abnormalities
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients have no bleeding abnormalities | rel=r_associated | relid=0 | w=28
  4098. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:most patients present in infancy with anemia
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients present in infancy with anemia | rel=r_associated | relid=0 | w=28
  4099. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:motor symptoms are variable
    n1=en:incidence of 1 in 250,000 births | n2=en:motor symptoms are variable | rel=r_associated | relid=0 | w=28
  4100. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:mulibrey is an acronym (muscle, liver, brain, and eyes)
    n1=en:incidence of 1 in 250,000 births | n2=en:mulibrey is an acronym (muscle, liver, brain, and eyes) | rel=r_associated | relid=0 | w=28
  4101. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl)
    n1=en:incidence of 1 in 250,000 births | n2=en:mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl) | rel=r_associated | relid=0 | w=28
  4102. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy
    n1=en:incidence of 1 in 250,000 births | n2=en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy | rel=r_associated | relid=0 | w=28
  4103. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:mutation in the hcrt gene has been identified in 1 patient
    n1=en:incidence of 1 in 250,000 births | n2=en:mutation in the hcrt gene has been identified in 1 patient | rel=r_associated | relid=0 | w=28
  4104. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:near-normoglycemic remission for period of months to years without insulin treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:near-normoglycemic remission for period of months to years without insulin treatment | rel=r_associated | relid=0 | w=28
  4105. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected
    n1=en:incidence of 1 in 250,000 births | n2=en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected | rel=r_associated | relid=0 | w=28
  4106. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:no abdominal symptoms or neurologic symptoms in harderoporphyria
    n1=en:incidence of 1 in 250,000 births | n2=en:no abdominal symptoms or neurologic symptoms in harderoporphyria | rel=r_associated | relid=0 | w=28
  4107. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:nonprogressive
    n1=en:incidence of 1 in 250,000 births | n2=en:nonprogressive | rel=r_associated | relid=0 | w=28
  4108. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:normal development in first 6-12 months, followed by facial coarsening and progressive delay in physical and mental development
    n1=en:incidence of 1 in 250,000 births | 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=28
  4109. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:normal fertility
    n1=en:incidence of 1 in 250,000 births | n2=en:normal fertility | rel=r_associated | relid=0 | w=28
  4110. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:normal sweat electrolytes
    n1=en:incidence of 1 in 250,000 births | n2=en:normal sweat electrolytes | rel=r_associated | relid=0 | w=28
  4111. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:not all patients have a myopathy
    n1=en:incidence of 1 in 250,000 births | n2=en:not all patients have a myopathy | rel=r_associated | relid=0 | w=28
  4112. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:nystagmus is often the presenting sign
    n1=en:incidence of 1 in 250,000 births | n2=en:nystagmus is often the presenting sign | rel=r_associated | relid=0 | w=28
  4113. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:occurs most often between 5 and 15 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:occurs most often between 5 and 15 years of age | rel=r_associated | relid=0 | w=28
  4114. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:often fatal in utero
    n1=en:incidence of 1 in 250,000 births | n2=en:often fatal in utero | rel=r_associated | relid=0 | w=28
  4115. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene
    n1=en:incidence of 1 in 250,000 births | n2=en:oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene | rel=r_associated | relid=0 | w=28
  4116. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:one chinese family has been reported (as of august 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:one chinese family has been reported (as of august 2011) | rel=r_associated | relid=0 | w=28
  4117. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:one consanguineous pakistani family has been reported (last curated september 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one consanguineous pakistani family has been reported (last curated september 2014) | rel=r_associated | relid=0 | w=28
  4118. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:one consanguineous turkish family has been reported (last curated december 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one consanguineous turkish family has been reported (last curated december 2014) | rel=r_associated | relid=0 | w=28
  4119. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:one family has been reported (as of january 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (as of january 2011) | rel=r_associated | relid=0 | w=28
  4120. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:one family has been reported (last curated january 2010)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (last curated january 2010) | rel=r_associated | relid=0 | w=28
  4121. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:one family has been reported (last curated june 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (last curated june 2014) | rel=r_associated | relid=0 | w=28
  4122. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:one family has been reported (last curated may 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (last curated may 2012) | rel=r_associated | relid=0 | w=28
  4123. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:one family has been reported (last curated november 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (last curated november 2014) | rel=r_associated | relid=0 | w=28
  4124. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:one family of puerto rican descent has been reported (last curated january 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family of puerto rican descent has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=28
  4125. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:one family with 3 affected males has been reported (as of october 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family with 3 affected males has been reported (as of october 2011) | rel=r_associated | relid=0 | w=28
  4126. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:one family with 3 patients and 1 patient with sporadic disease have been reported (last curated june 2011)
    n1=en:incidence of 1 in 250,000 births | 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=28
  4127. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:one large family has been reported (last curated june 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one large family has been reported (last curated june 2013) | rel=r_associated | relid=0 | w=28
  4128. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:one of the 2 most common forms of albinism in the world, along with oca2
    n1=en:incidence of 1 in 250,000 births | n2=en:one of the 2 most common forms of albinism in the world, along with oca2 | rel=r_associated | relid=0 | w=28
  4129. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:one patient has been reported (last curated november 2010)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient has been reported (last curated november 2010) | rel=r_associated | relid=0 | w=28
  4130. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:one swiss family with 19 affected individuals has been described (last curated february 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one swiss family with 19 affected individuals has been described (last curated february 2014) | rel=r_associated | relid=0 | w=28
  4131. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:only 13% develop hypertension at 18 years of age or less
    n1=en:incidence of 1 in 250,000 births | n2=en:only 13% develop hypertension at 18 years of age or less | rel=r_associated | relid=0 | w=28
  4132. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:only apparent in patients taking eculizumab
    n1=en:incidence of 1 in 250,000 births | n2=en:only apparent in patients taking eculizumab | rel=r_associated | relid=0 | w=28
  4133. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:only female patients reported (last curated october 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:only female patients reported (last curated october 2013) | rel=r_associated | relid=0 | w=28
  4134. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset 10-20 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset 10-20 years of age | rel=r_associated | relid=0 | w=28
  4135. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset 2-4 years of age in iia
    n1=en:incidence of 1 in 250,000 births | n2=en:onset 2-4 years of age in iia | rel=r_associated | relid=0 | w=28
  4136. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset age 20 to 51 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset age 20 to 51 years | rel=r_associated | relid=0 | w=28
  4137. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset ages 2 to 14 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset ages 2 to 14 years | rel=r_associated | relid=0 | w=28
  4138. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset at birth or early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset at birth or early childhood | rel=r_associated | relid=0 | w=28
  4139. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset at birth or in first months of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset at birth or in first months of life | rel=r_associated | relid=0 | w=28
  4140. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset before age 5 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset before age 5 years | rel=r_associated | relid=0 | w=28
  4141. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset between 1-3 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between 1-3 years | rel=r_associated | relid=0 | w=28
  4142. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset between 18 and 65 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between 18 and 65 years | rel=r_associated | relid=0 | w=28
  4143. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset between 34 and 51 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between 34 and 51 years of age | rel=r_associated | relid=0 | w=28
  4144. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset between age 4 to 7 months
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between age 4 to 7 months | rel=r_associated | relid=0 | w=28
  4145. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset between second to sixth decades of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between second to sixth decades of life | rel=r_associated | relid=0 | w=28
  4146. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset by age 2 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset by age 2 years | rel=r_associated | relid=0 | w=28
  4147. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset in adolescence or young adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in adolescence or young adulthood | rel=r_associated | relid=0 | w=28
  4148. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness | rel=r_associated | relid=0 | w=28
  4149. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset in childhood of blistering and pigmentary changes
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood of blistering and pigmentary changes | rel=r_associated | relid=0 | w=28
  4150. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset in childhood or youth
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood or youth | rel=r_associated | relid=0 | w=28
  4151. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset in early childhood (infancy to age 7 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in early childhood (infancy to age 7 years) | rel=r_associated | relid=0 | w=28
  4152. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset in early childhood or adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in early childhood or adolescence | rel=r_associated | relid=0 | w=28
  4153. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset in first and second decades
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in first and second decades | rel=r_associated | relid=0 | w=28
  4154. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset in infancy (average 4 months, but may be earlier)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in infancy (average 4 months, but may be earlier) | rel=r_associated | relid=0 | w=28
  4155. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset in infancy after weaning
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in infancy after weaning | rel=r_associated | relid=0 | w=28
  4156. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset in infancy after weaning from being breast-fed
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in infancy after weaning from being breast-fed | rel=r_associated | relid=0 | w=28
  4157. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset in late twenties to thirties
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in late twenties to thirties | rel=r_associated | relid=0 | w=28
  4158. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset in late-childhood to early adulthood (12 to 20 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in late-childhood to early adulthood (12 to 20 years) | rel=r_associated | relid=0 | w=28
  4159. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset in second decade, but sometimes earlier
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in second decade, but sometimes earlier | rel=r_associated | relid=0 | w=28
  4160. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset in second or third decades
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in second or third decades | rel=r_associated | relid=0 | w=28
  4161. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset in teenage or young adult years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in teenage or young adult years | rel=r_associated | relid=0 | w=28
  4162. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset in teens to 20's
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in teens to 20's | rel=r_associated | relid=0 | w=28
  4163. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset in young adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in young adulthood | rel=r_associated | relid=0 | w=28
  4164. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset of achalasia in infancy or early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of achalasia in infancy or early childhood | rel=r_associated | relid=0 | w=28
  4165. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset of acute encephalopathic attacks in childhood (3 to 7 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of acute encephalopathic attacks in childhood (3 to 7 years) | rel=r_associated | relid=0 | w=28
  4166. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood | rel=r_associated | relid=0 | w=28
  4167. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset of dementia in the thirties or forties
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of dementia in the thirties or forties | rel=r_associated | relid=0 | w=28
  4168. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset of diabetes in neonatal period/ early infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of diabetes in neonatal period/ early infancy | rel=r_associated | relid=0 | w=28
  4169. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset of disease 7 months to 3 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of disease 7 months to 3 years | rel=r_associated | relid=0 | w=28
  4170. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset of disease before 7 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of disease before 7 years of age | rel=r_associated | relid=0 | w=28
  4171. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset of dystonia is in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of dystonia is in childhood | rel=r_associated | relid=0 | w=28
  4172. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset of fractures in infancy to early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of fractures in infancy to early childhood | rel=r_associated | relid=0 | w=28
  4173. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset of hearing loss in first or second decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of hearing loss in first or second decade | rel=r_associated | relid=0 | w=28
  4174. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset of major clinical features in young adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of major clinical features in young adulthood | rel=r_associated | relid=0 | w=28
  4175. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset of myoclonus later in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of myoclonus later in childhood | rel=r_associated | relid=0 | w=28
  4176. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset of parkinsonism in first decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of parkinsonism in first decade | rel=r_associated | relid=0 | w=28
  4177. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset of slowly progressive spastic paraplegia in first or second decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of slowly progressive spastic paraplegia in first or second decade | rel=r_associated | relid=0 | w=28
  4178. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset often in late adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:onset often in late adolescence | rel=r_associated | relid=0 | w=28
  4179. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset second decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset second decade of life | rel=r_associated | relid=0 | w=28
  4180. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset usually in adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in adolescence | rel=r_associated | relid=0 | w=28
  4181. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset usually in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in childhood | rel=r_associated | relid=0 | w=28
  4182. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset usually in childhood (range 6 months to 16 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in childhood (range 6 months to 16 years) | rel=r_associated | relid=0 | w=28
  4183. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset usually in childhood or adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in childhood or adolescence | rel=r_associated | relid=0 | w=28
  4184. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset usually in early adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in early adolescence | rel=r_associated | relid=0 | w=28
  4185. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset usually in infancy although later onset may occur
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in infancy although later onset may occur | rel=r_associated | relid=0 | w=28
  4186. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:onset usually in late adolescence or early adulthood (range 15 to 45 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in late adolescence or early adulthood (range 15 to 45 years) | rel=r_associated | relid=0 | w=28
  4187. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:ophthalmologic signs onset in first to sixth decade
    n1=en:incidence of 1 in 250,000 births | n2=en:ophthalmologic signs onset in first to sixth decade | rel=r_associated | relid=0 | w=28
  4188. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:other muscle become involved about 5 years after onset
    n1=en:incidence of 1 in 250,000 births | n2=en:other muscle become involved about 5 years after onset | rel=r_associated | relid=0 | w=28
  4189. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder | rel=r_associated | relid=0 | w=28
  4190. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:overall prevalence is between 0.5 and 14 per 100,000 people per year
    n1=en:incidence of 1 in 250,000 births | n2=en:overall prevalence is between 0.5 and 14 per 100,000 people per year | rel=r_associated | relid=0 | w=28
  4191. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:pain is noted to feel cold
    n1=en:incidence of 1 in 250,000 births | n2=en:pain is noted to feel cold | rel=r_associated | relid=0 | w=28
  4192. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> 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:incidence of 1 in 250,000 births | 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=28
  4193. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:partially responsive to laser treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:partially responsive to laser treatment | rel=r_associated | relid=0 | w=28
  4194. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:pathogenic alleles contain 71 to 1,300 repeats
    n1=en:incidence of 1 in 250,000 births | n2=en:pathogenic alleles contain 71 to 1,300 repeats | rel=r_associated | relid=0 | w=28
  4195. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:patients become wheelchair-bound about 10 years after onset
    n1=en:incidence of 1 in 250,000 births | n2=en:patients become wheelchair-bound about 10 years after onset | rel=r_associated | relid=0 | w=28
  4196. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:patients do not have clinical hypothyroidism
    n1=en:incidence of 1 in 250,000 births | n2=en:patients do not have clinical hypothyroidism | rel=r_associated | relid=0 | w=28
  4197. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:patients do not have ectopia lentis
    n1=en:incidence of 1 in 250,000 births | n2=en:patients do not have ectopia lentis | rel=r_associated | relid=0 | w=28
  4198. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:patients from old order amish community and turkey have been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:patients from old order amish community and turkey have been reported | rel=r_associated | relid=0 | w=28
  4199. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:patients may have benign course until late adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:patients may have benign course until late adulthood | rel=r_associated | relid=0 | w=28
  4200. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:patients often become wheelchair-bound 3 to 4 decades after onset
    n1=en:incidence of 1 in 250,000 births | n2=en:patients often become wheelchair-bound 3 to 4 decades after onset | rel=r_associated | relid=0 | w=28
  4201. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:patients often nonambulatory by the mid-twenties
    n1=en:incidence of 1 in 250,000 births | n2=en:patients often nonambulatory by the mid-twenties | rel=r_associated | relid=0 | w=28
  4202. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment | rel=r_associated | relid=0 | w=28
  4203. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:patients with homozygous or compound heterozygous mutations have more severe renal glucose wasting than those with heterozygous mutations
    n1=en:incidence of 1 in 250,000 births | 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=28
  4204. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:patients with more severe phenotype have been reported with mutations in more than 1 lqt-related gene
    n1=en:incidence of 1 in 250,000 births | 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=28
  4205. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:patients with more severe phenotype have been reported with mutations in more than 1 lqts-related gene
    n1=en:incidence of 1 in 250,000 births | 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=28
  4206. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:patients with total c4 deficiency are homozygous for double null c4 haplotype
    n1=en:incidence of 1 in 250,000 births | n2=en:patients with total c4 deficiency are homozygous for double null c4 haplotype | rel=r_associated | relid=0 | w=28
  4207. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:penetrance 86% by 50 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:penetrance 86% by 50 years of age | rel=r_associated | relid=0 | w=28
  4208. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers
    n1=en:incidence of 1 in 250,000 births | n2=en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers | rel=r_associated | relid=0 | w=28
  4209. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:penetrance of 70 to 80% over a lifetime in heterozygous mutation carriers
    n1=en:incidence of 1 in 250,000 births | n2=en:penetrance of 70 to 80% over a lifetime in heterozygous mutation carriers | rel=r_associated | relid=0 | w=28
  4210. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:peo is not always present
    n1=en:incidence of 1 in 250,000 births | n2=en:peo is not always present | rel=r_associated | relid=0 | w=28
  4211. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:periventricular heterotopia (300049) is an allelic disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:periventricular heterotopia (300049) is an allelic disorder | rel=r_associated | relid=0 | w=28
  4212. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:phenotypic heterogeneity
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic heterogeneity | rel=r_associated | relid=0 | w=28
  4213. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:phenotypic overlap between neurofibromatosis type 1 (162200) and noonan syndrome (163950)
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic overlap between neurofibromatosis type 1 (162200) and noonan syndrome (163950) | rel=r_associated | relid=0 | w=28
  4214. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:phenotypically indistinguishable from hemophilia a (306700)
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypically indistinguishable from hemophilia a (306700) | rel=r_associated | relid=0 | w=28
  4215. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:phenotypically mild form of joubert syndrome
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypically mild form of joubert syndrome | rel=r_associated | relid=0 | w=28
  4216. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:pigmentary abnormalities apparent at birth or in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:pigmentary abnormalities apparent at birth or in infancy | rel=r_associated | relid=0 | w=28
  4217. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:poor response to the c5 inhibitor eculizumab
    n1=en:incidence of 1 in 250,000 births | n2=en:poor response to the c5 inhibitor eculizumab | rel=r_associated | relid=0 | w=28
  4218. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:postlingual onset
    n1=en:incidence of 1 in 250,000 births | n2=en:postlingual onset | rel=r_associated | relid=0 | w=28
  4219. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:preferably treated with iodine supplementation rather than thyroid hormone replacement
    n1=en:incidence of 1 in 250,000 births | n2=en:preferably treated with iodine supplementation rather than thyroid hormone replacement | rel=r_associated | relid=0 | w=28
  4220. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:premature aging syndrome
    n1=en:incidence of 1 in 250,000 births | n2=en:premature aging syndrome | rel=r_associated | relid=0 | w=28
  4221. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:presents at birth or early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:presents at birth or early childhood | rel=r_associated | relid=0 | w=28
  4222. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:presumed autosomal dominant with incomplete penetrance
    n1=en:incidence of 1 in 250,000 births | n2=en:presumed autosomal dominant with incomplete penetrance | rel=r_associated | relid=0 | w=28
  4223. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:prevalence in finland is 1 in 25,000
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence in finland is 1 in 25,000 | rel=r_associated | relid=0 | w=28
  4224. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:prevalence in poland is 1 in 129,000
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence in poland is 1 in 129,000 | rel=r_associated | relid=0 | w=28
  4225. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:prevalence of 1 in 1,429 in tanzania
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 1 in 1,429 in tanzania | rel=r_associated | relid=0 | w=28
  4226. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:prevalence of 1 in 7,900 in cameroon
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 1 in 7,900 in cameroon | rel=r_associated | relid=0 | w=28
  4227. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:prevalence of 19 in 1,000,000 in sweden
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 19 in 1,000,000 in sweden | rel=r_associated | relid=0 | w=28
  4228. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:prevalent in bulgarian gypsies
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalent in bulgarian gypsies | rel=r_associated | relid=0 | w=28
  4229. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada | rel=r_associated | relid=0 | w=28
  4230. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:prevalent in the old order amish in the u.s. and in finland
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalent in the old order amish in the u.s. and in finland | rel=r_associated | relid=0 | w=28
  4231. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:progressive deafness
    n1=en:incidence of 1 in 250,000 births | n2=en:progressive deafness | rel=r_associated | relid=0 | w=28
  4232. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:progressive disease is seen in some patients
    n1=en:incidence of 1 in 250,000 births | n2=en:progressive disease is seen in some patients | rel=r_associated | relid=0 | w=28
  4233. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:progressive disorder regarding both neurologic and renal symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:progressive disorder regarding both neurologic and renal symptoms | rel=r_associated | relid=0 | w=28
  4234. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:progressive renal disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:progressive renal disorder | rel=r_associated | relid=0 | w=28
  4235. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:pseudomembrane formation triggered by injury, infection, irritation, surgery
    n1=en:incidence of 1 in 250,000 births | n2=en:pseudomembrane formation triggered by injury, infection, irritation, surgery | rel=r_associated | relid=0 | w=28
  4236. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:quinidine therapy is effective
    n1=en:incidence of 1 in 250,000 births | n2=en:quinidine therapy is effective | rel=r_associated | relid=0 | w=28
  4237. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:rare survival to teens
    n1=en:incidence of 1 in 250,000 births | n2=en:rare survival to teens | rel=r_associated | relid=0 | w=28
  4238. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:rarely produces clinical jaundice
    n1=en:incidence of 1 in 250,000 births | n2=en:rarely produces clinical jaundice | rel=r_associated | relid=0 | w=28
  4239. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:reason for lab test:type:pt:bld.dot:nom
    n1=en:incidence of 1 in 250,000 births | n2=en:reason for lab test:type:pt:bld.dot:nom | rel=r_associated | relid=0 | w=28
  4240. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:recurrent acute episodes
    n1=en:incidence of 1 in 250,000 births | n2=en:recurrent acute episodes | rel=r_associated | relid=0 | w=28
  4241. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:recurrent bacterial infection
    n1=en:incidence of 1 in 250,000 births | n2=en:recurrent bacterial infection | rel=r_associated | relid=0 | w=28
  4242. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:recurrent bacterial infections beginning in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:recurrent bacterial infections beginning in childhood | rel=r_associated | relid=0 | w=28
  4243. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:reduced exercise tolerance
    n1=en:incidence of 1 in 250,000 births | n2=en:reduced exercise tolerance | rel=r_associated | relid=0 | w=28
  4244. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:reduced life expectancy, death by 10 years of age in 70% of patients
    n1=en:incidence of 1 in 250,000 births | n2=en:reduced life expectancy, death by 10 years of age in 70% of patients | rel=r_associated | relid=0 | w=28
  4245. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:reduced penetrance (89%)
    n1=en:incidence of 1 in 250,000 births | n2=en:reduced penetrance (89%) | rel=r_associated | relid=0 | w=28
  4246. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:reduced penetrance (about 60%)
    n1=en:incidence of 1 in 250,000 births | n2=en:reduced penetrance (about 60%) | rel=r_associated | relid=0 | w=28
  4247. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:reference lab test identifier:id:xxx:reference lab test:nom
    n1=en:incidence of 1 in 250,000 births | n2=en:reference lab test identifier:id:xxx:reference lab test:nom | rel=r_associated | relid=0 | w=28
  4248. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:reference lab test method:type:time reported elsewhere:reference lab test:narrative
    n1=en:incidence of 1 in 250,000 births | n2=en:reference lab test method:type:time reported elsewhere:reference lab test:narrative | rel=r_associated | relid=0 | w=28
  4249. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:regression in infancy (in some patients)
    n1=en:incidence of 1 in 250,000 births | n2=en:regression in infancy (in some patients) | rel=r_associated | relid=0 | w=28
  4250. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:relatively benign course after acute episodes in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:relatively benign course after acute episodes in childhood | rel=r_associated | relid=0 | w=28
  4251. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:relatively slow progression
    n1=en:incidence of 1 in 250,000 births | n2=en:relatively slow progression | rel=r_associated | relid=0 | w=28
  4252. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:reported in a large hutterite family
    n1=en:incidence of 1 in 250,000 births | n2=en:reported in a large hutterite family | rel=r_associated | relid=0 | w=28
  4253. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:risk of affected offspring in maternal translocation carrier - 4-10%
    n1=en:incidence of 1 in 250,000 births | n2=en:risk of affected offspring in maternal translocation carrier - 4-10% | rel=r_associated | relid=0 | w=28
  4254. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:scarf is an acronym - skeletal abnormalities, cutis laxa/craniosynostosis, ambiguous genitalia, retardation, and facial abnormalities
    n1=en:incidence of 1 in 250,000 births | n2=en:scarf is an acronym - skeletal abnormalities, cutis laxa/craniosynostosis, ambiguous genitalia, retardation, and facial abnormalities | rel=r_associated | relid=0 | w=28
  4255. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:see also autosomal recessive familial mediterranean fever (fmf, 249100)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also autosomal recessive familial mediterranean fever (fmf, 249100) | rel=r_associated | relid=0 | w=28
  4256. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:see also cbld (277410)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also cbld (277410) | rel=r_associated | relid=0 | w=28
  4257. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:see also cmtx1 (302800) and cmt3x (302802)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also cmtx1 (302800) and cmt3x (302802) | rel=r_associated | relid=0 | w=28
  4258. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:see also isolated pneumothorax (173600), an allelic disorder that may represent a mild form of the bhd syndrome
    n1=en:incidence of 1 in 250,000 births | 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=28
  4259. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:see also pseudopseudohypoparathyroidism (612463)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also pseudopseudohypoparathyroidism (612463) | rel=r_associated | relid=0 | w=28
  4260. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:see also simplex eb with pyloric atresia (612138)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also simplex eb with pyloric atresia (612138) | rel=r_associated | relid=0 | w=28
  4261. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:see also x-linked nephrocalcinosis (310468), x-linked recessive hypophosphatemic rickets (300554), and low-molecular-weight proteinuria with nephrocalcinosis (308990)
    n1=en:incidence of 1 in 250,000 births | 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=28
  4262. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:see cmt4a (214400) for autosomal recessive demyelinating forms
    n1=en:incidence of 1 in 250,000 births | n2=en:see cmt4a (214400) for autosomal recessive demyelinating forms | rel=r_associated | relid=0 | w=28
  4263. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:see entry 104300 for general information on alzheimer disease
    n1=en:incidence of 1 in 250,000 births | n2=en:see entry 104300 for general information on alzheimer disease | rel=r_associated | relid=0 | w=28
  4264. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:seizure onset at a mean of 14 months (range 6 to 36 months)
    n1=en:incidence of 1 in 250,000 births | n2=en:seizure onset at a mean of 14 months (range 6 to 36 months) | rel=r_associated | relid=0 | w=28
  4265. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:seizures are refractory to treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures are refractory to treatment | rel=r_associated | relid=0 | w=28
  4266. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:serum triglycerides decrease with age
    n1=en:incidence of 1 in 250,000 births | n2=en:serum triglycerides decrease with age | rel=r_associated | relid=0 | w=28
  4267. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:service comment 07:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=28
  4268. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:service comment 08:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=28
  4269. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:service comment 11:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=28
  4270. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:service comment 14:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=28
  4271. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:service comment 44:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=28
  4272. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:service comment 51:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=28
  4273. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:service comment 52:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=28
  4274. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:service comment 74:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=28
  4275. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:service comment 78:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=28
  4276. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:severe disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:severe disorder | rel=r_associated | relid=0 | w=28
  4277. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:severe incapacitation in 10-20 years
    n1=en:incidence of 1 in 250,000 births | n2=en:severe incapacitation in 10-20 years | rel=r_associated | relid=0 | w=28
  4278. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:severe infantile cases usually die by 6 months
    n1=en:incidence of 1 in 250,000 births | n2=en:severe infantile cases usually die by 6 months | rel=r_associated | relid=0 | w=28
  4279. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:severity of phenotype is not related to residual enzyme activity
    n1=en:incidence of 1 in 250,000 births | n2=en:severity of phenotype is not related to residual enzyme activity | rel=r_associated | relid=0 | w=28
  4280. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:short limbs become more apparent during childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:short limbs become more apparent during childhood | rel=r_associated | relid=0 | w=28
  4281. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:significant number of patients are stillborn or die in neonatal period
    n1=en:incidence of 1 in 250,000 births | n2=en:significant number of patients are stillborn or die in neonatal period | rel=r_associated | relid=0 | w=28
  4282. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:skin lesions improve in the summer
    n1=en:incidence of 1 in 250,000 births | n2=en:skin lesions improve in the summer | rel=r_associated | relid=0 | w=28
  4283. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:skin manifestations may not be present
    n1=en:incidence of 1 in 250,000 births | n2=en:skin manifestations may not be present | rel=r_associated | relid=0 | w=28
  4284. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:slightly increased female:male ratio (1.4:1 to 2:1)
    n1=en:incidence of 1 in 250,000 births | n2=en:slightly increased female:male ratio (1.4:1 to 2:1) | rel=r_associated | relid=0 | w=28
  4285. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:slow progression
    n1=en:incidence of 1 in 250,000 births | n2=en:slow progression | rel=r_associated | relid=0 | w=28
  4286. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:slowly progressive or nonprogressive course
    n1=en:incidence of 1 in 250,000 births | n2=en:slowly progressive or nonprogressive course | rel=r_associated | relid=0 | w=28
  4287. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:some carrier females may manifest mild symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:some carrier females may manifest mild symptoms | rel=r_associated | relid=0 | w=28
  4288. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:some familial occurrence, most de novo aberrations
    n1=en:incidence of 1 in 250,000 births | n2=en:some familial occurrence, most de novo aberrations | rel=r_associated | relid=0 | w=28
  4289. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:some families have axonal cmt (cmt2m)
    n1=en:incidence of 1 in 250,000 births | n2=en:some families have axonal cmt (cmt2m) | rel=r_associated | relid=0 | w=28
  4290. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:some features are variably expressed
    n1=en:incidence of 1 in 250,000 births | n2=en:some features are variably expressed | rel=r_associated | relid=0 | w=28
  4291. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:some heterozygotes may have increased urinary excretion of cystine and may develop stones
    n1=en:incidence of 1 in 250,000 births | n2=en:some heterozygotes may have increased urinary excretion of cystine and may develop stones | rel=r_associated | relid=0 | w=28
  4292. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:some patients do not develop renal failure
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients do not develop renal failure | rel=r_associated | relid=0 | w=28
  4293. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:some patients have only plantar surface involvement
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients have only plantar surface involvement | rel=r_associated | relid=0 | w=28
  4294. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:some patients may live to adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may live to adulthood | rel=r_associated | relid=0 | w=28
  4295. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:some patients show a favorable response to sulfonylurea treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients show a favorable response to sulfonylurea treatment | rel=r_associated | relid=0 | w=28
  4296. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:some patients show significant clinical improvement with riboflavin supplementation
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients show significant clinical improvement with riboflavin supplementation | rel=r_associated | relid=0 | w=28
  4297. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:some patients with 2 opa1 mutations have a more severe phenotype with earlier onset
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients with 2 opa1 mutations have a more severe phenotype with earlier onset | rel=r_associated | relid=0 | w=28
  4298. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:some patients with heterozygous mutations may be symptomatic
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients with heterozygous mutations may be symptomatic | rel=r_associated | relid=0 | w=28
  4299. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:some response to l-dopa therapy
    n1=en:incidence of 1 in 250,000 births | n2=en:some response to l-dopa therapy | rel=r_associated | relid=0 | w=28
  4300. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:spontaneous resolution usually after 12 months of age
    n1=en:incidence of 1 in 250,000 births | n2=en:spontaneous resolution usually after 12 months of age | rel=r_associated | relid=0 | w=28
  4301. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:subset of patients have french-canadian leigh syndrome (220111)
    n1=en:incidence of 1 in 250,000 births | n2=en:subset of patients have french-canadian leigh syndrome (220111) | rel=r_associated | relid=0 | w=28
  4302. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:subtype of migraine with aura
    n1=en:incidence of 1 in 250,000 births | n2=en:subtype of migraine with aura | rel=r_associated | relid=0 | w=28
  4303. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:symptoms must occur for 6 months including 1 month of characteristic symptoms (e.g. delusions) to make diagnosis
    n1=en:incidence of 1 in 250,000 births | 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=28
  4304. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:symptoms precipitated by exercise and excitement
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms precipitated by exercise and excitement | rel=r_associated | relid=0 | w=28
  4305. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:symptoms usually induced only by strenuous exercise
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms usually induced only by strenuous exercise | rel=r_associated | relid=0 | w=28
  4306. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:symptoms usually resolve without treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms usually resolve without treatment | rel=r_associated | relid=0 | w=28
  4307. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:symptoms vary from asymptomatic patients to patients with metabolic acidosis
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms vary from asymptomatic patients to patients with metabolic acidosis | rel=r_associated | relid=0 | w=28
  4308. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:the lower the s-ado:saicr ratio, the more severe the phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:the lower the s-ado:saicr ratio, the more severe the phenotype | rel=r_associated | relid=0 | w=28
  4309. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:the mttl1 c.3243a-g transition (590050.0001) is the most common mutation
    n1=en:incidence of 1 in 250,000 births | n2=en:the mttl1 c.3243a-g transition (590050.0001) is the most common mutation | rel=r_associated | relid=0 | w=28
  4310. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:therapy-induced dyskinesias
    n1=en:incidence of 1 in 250,000 births | n2=en:therapy-induced dyskinesias | rel=r_associated | relid=0 | w=28
  4311. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:there are several subtypes
    n1=en:incidence of 1 in 250,000 births | n2=en:there are several subtypes | rel=r_associated | relid=0 | w=28
  4312. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:those with intermediate repeat expansions show reduced penetrance
    n1=en:incidence of 1 in 250,000 births | n2=en:those with intermediate repeat expansions show reduced penetrance | rel=r_associated | relid=0 | w=28
  4313. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:three distinct clinical forms - endemic (equatorial africa), sporadic, and immunodeficiency-associated (e.g., hiv infection)
    n1=en:incidence of 1 in 250,000 births | n2=en:three distinct clinical forms - endemic (equatorial africa), sporadic, and immunodeficiency-associated (e.g., hiv infection) | rel=r_associated | relid=0 | w=28
  4314. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:three families have been reported (last curated april 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:three families have been reported (last curated april 2011) | rel=r_associated | relid=0 | w=28
  4315. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:three families have been reported (last curated july 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:three families have been reported (last curated july 2013) | rel=r_associated | relid=0 | w=28
  4316. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:three unrelated patients have been reported (last curated january 2010)
    n1=en:incidence of 1 in 250,000 births | n2=en:three unrelated patients have been reported (last curated january 2010) | rel=r_associated | relid=0 | w=28
  4317. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:tooth agenesis ranges from 1 missing tooth to marked oligodontia
    n1=en:incidence of 1 in 250,000 births | n2=en:tooth agenesis ranges from 1 missing tooth to marked oligodontia | rel=r_associated | relid=0 | w=28
  4318. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:transfusion of plasma, which has apoc-ii, causes decrease in plasma triglycerides
    n1=en:incidence of 1 in 250,000 births | n2=en:transfusion of plasma, which has apoc-ii, causes decrease in plasma triglycerides | rel=r_associated | relid=0 | w=28
  4319. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:treatment with betaine, especially for pyridoxine nonresponders
    n1=en:incidence of 1 in 250,000 births | n2=en:treatment with betaine, especially for pyridoxine nonresponders | rel=r_associated | relid=0 | w=28
  4320. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:treatment with bh4 is effective
    n1=en:incidence of 1 in 250,000 births | n2=en:treatment with bh4 is effective | rel=r_associated | relid=0 | w=28
  4321. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:treatment with oral coenzyme q may ameliorate symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:treatment with oral coenzyme q may ameliorate symptoms | rel=r_associated | relid=0 | w=28
  4322. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:tumors may show spontaneous regression
    n1=en:incidence of 1 in 250,000 births | n2=en:tumors may show spontaneous regression | rel=r_associated | relid=0 | w=28
  4323. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:two autosomal dominant families have been reported (as of may 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:two autosomal dominant families have been reported (as of may 2011) | rel=r_associated | relid=0 | w=28
  4324. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form
    n1=en:incidence of 1 in 250,000 births | n2=en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form | rel=r_associated | relid=0 | w=28
  4325. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:two families described (last curated july 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:two families described (last curated july 2013) | rel=r_associated | relid=0 | w=28
  4326. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:two families have been reported (last curated january 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:two families have been reported (last curated january 2011) | rel=r_associated | relid=0 | w=28
  4327. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:two families reported (last curated september 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two families reported (last curated september 2012) | rel=r_associated | relid=0 | w=28
  4328. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:two forms: iia (severe) and iib (mild)
    n1=en:incidence of 1 in 250,000 births | n2=en:two forms: iia (severe) and iib (mild) | rel=r_associated | relid=0 | w=28
  4329. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:two japanese patients have been reported (last curated march 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:two japanese patients have been reported (last curated march 2013) | rel=r_associated | relid=0 | w=28
  4330. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:two loci control synthesis of c4, c4a (120810) and c4b (120820)
    n1=en:incidence of 1 in 250,000 births | n2=en:two loci control synthesis of c4, c4a (120810) and c4b (120820) | rel=r_associated | relid=0 | w=28
  4331. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:two main phenotypes, metabolic and neurologic
    n1=en:incidence of 1 in 250,000 births | n2=en:two main phenotypes, metabolic and neurologic | rel=r_associated | relid=0 | w=28
  4332. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:two pakistani families reported (last curated july 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two pakistani families reported (last curated july 2014) | rel=r_associated | relid=0 | w=28
  4333. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:two patients reported (last curated may 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:two patients reported (last curated may 2013) | rel=r_associated | relid=0 | w=28
  4334. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:two sibs have been reported (last curated may 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:two sibs have been reported (last curated may 2013) | rel=r_associated | relid=0 | w=28
  4335. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:two sibs, a boy and a girl, have been reported (as of july 2009)
    n1=en:incidence of 1 in 250,000 births | n2=en:two sibs, a boy and a girl, have been reported (as of july 2009) | rel=r_associated | relid=0 | w=28
  4336. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:two unrelated chinese families have been reported (last curated november 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated chinese families have been reported (last curated november 2013) | rel=r_associated | relid=0 | w=28
  4337. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:two unrelated families have been reported (last curated january 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated families have been reported (last curated january 2014) | rel=r_associated | relid=0 | w=28
  4338. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:two unrelated families have been reported (last curated november 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated families have been reported (last curated november 2012) | rel=r_associated | relid=0 | w=28
  4339. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:two unrelated families have been reported (last curated september 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated families have been reported (last curated september 2013) | rel=r_associated | relid=0 | w=28
  4340. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:two unrelated japanese patients have been reported (last curated may 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated japanese patients have been reported (last curated may 2012) | rel=r_associated | relid=0 | w=28
  4341. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:two unrelated patients have been reported (last curated september 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=28
  4342. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:two unrelated patients with pathogenic csf2rb mutations have been reported (last curated december 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients with pathogenic csf2rb mutations have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=28
  4343. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:type i sialidosis (cherry-red spot/myoclonus syndrome ) - mild disease, no dysmorphic features, onset in second decade
    n1=en:incidence of 1 in 250,000 births | 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=28
  4344. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats
    n1=en:incidence of 1 in 250,000 births | n2=en:unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats | rel=r_associated | relid=0 | w=28
  4345. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:unusual skill with jigsaw puzzle
    n1=en:incidence of 1 in 250,000 births | n2=en:unusual skill with jigsaw puzzle | rel=r_associated | relid=0 | w=28
  4346. en:incidence of 1 in 250,000 births -- 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:incidence of 1 in 250,000 births | 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
  4347. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:usually occurs in children younger than 5 years
    n1=en:incidence of 1 in 250,000 births | n2=en:usually occurs in children younger than 5 years | rel=r_associated | relid=0 | w=28
  4348. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:variable age at onset (8 to 62 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (8 to 62 years) | rel=r_associated | relid=0 | w=28
  4349. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:variable age at onset (childhood to adulthood)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (childhood to adulthood) | rel=r_associated | relid=0 | w=28
  4350. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:variable age at onset (range 10 to 50 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (range 10 to 50 years) | rel=r_associated | relid=0 | w=28
  4351. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:variable age at onset (range infancy to 30 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (range infancy to 30 years) | rel=r_associated | relid=0 | w=28
  4352. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:variable age at onset (usually 20 to 30 years of age)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (usually 20 to 30 years of age) | rel=r_associated | relid=0 | w=28
  4353. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:variable age at onset, range from infancy to adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset, range from infancy to adulthood | rel=r_associated | relid=0 | w=28
  4354. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:variable age at onset, usually in first decade, but can occur later
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset, usually in first decade, but can occur later | rel=r_associated | relid=0 | w=28
  4355. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:variable age of onset, from early childhood to seventh decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age of onset, from early childhood to seventh decade of life | rel=r_associated | relid=0 | w=28
  4356. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:variable cardiac defects
    n1=en:incidence of 1 in 250,000 births | n2=en:variable cardiac defects | rel=r_associated | relid=0 | w=28
  4357. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:variable distribution, may be focal, segmental, multifocal, or generalized
    n1=en:incidence of 1 in 250,000 births | n2=en:variable distribution, may be focal, segmental, multifocal, or generalized | rel=r_associated | relid=0 | w=28
  4358. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:variable frequency and severity
    n1=en:incidence of 1 in 250,000 births | n2=en:variable frequency and severity | rel=r_associated | relid=0 | w=28
  4359. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:variable penetrance of these features
    n1=en:incidence of 1 in 250,000 births | n2=en:variable penetrance of these features | rel=r_associated | relid=0 | w=28
  4360. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:variable phenotype within families ranging from woolly hair to hypotrichosis
    n1=en:incidence of 1 in 250,000 births | n2=en:variable phenotype within families ranging from woolly hair to hypotrichosis | rel=r_associated | relid=0 | w=28
  4361. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:variable phenotypic expression
    n1=en:incidence of 1 in 250,000 births | n2=en:variable phenotypic expression | rel=r_associated | relid=0 | w=28
  4362. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:variable severity of brain malformations
    n1=en:incidence of 1 in 250,000 births | n2=en:variable severity of brain malformations | rel=r_associated | relid=0 | w=28
  4363. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:variable severity of phenotype and other features may be present
    n1=en:incidence of 1 in 250,000 births | n2=en:variable severity of phenotype and other features may be present | rel=r_associated | relid=0 | w=28
  4364. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:variable severity, even within families
    n1=en:incidence of 1 in 250,000 births | n2=en:variable severity, even within families | rel=r_associated | relid=0 | w=28
  4365. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:variable severity, ranging from central severe to peripheral to transient
    n1=en:incidence of 1 in 250,000 births | n2=en:variable severity, ranging from central severe to peripheral to transient | rel=r_associated | relid=0 | w=28
  4366. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:variable survival (some neonatal lethality)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable survival (some neonatal lethality) | rel=r_associated | relid=0 | w=28
  4367. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:very slow progression
    n1=en:incidence of 1 in 250,000 births | n2=en:very slow progression | rel=r_associated | relid=0 | w=28
  4368. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:vhl type 2c - pheochromocytoma only
    n1=en:incidence of 1 in 250,000 births | n2=en:vhl type 2c - pheochromocytoma only | rel=r_associated | relid=0 | w=28
  4369. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:wasting of hands often occurs first
    n1=en:incidence of 1 in 250,000 births | n2=en:wasting of hands often occurs first | rel=r_associated | relid=0 | w=28
  4370. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:wide spectrum of severity
    n1=en:incidence of 1 in 250,000 births | n2=en:wide spectrum of severity | rel=r_associated | relid=0 | w=28
  4371. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:worldwide frequency of 1 in 100,000 infants
    n1=en:incidence of 1 in 250,000 births | n2=en:worldwide frequency of 1 in 100,000 infants | rel=r_associated | relid=0 | w=28
  4372. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:worsened by immunosuppressive therapy
    n1=en:incidence of 1 in 250,000 births | n2=en:worsened by immunosuppressive therapy | rel=r_associated | relid=0 | w=28
  4373. en:incidence of 1 in 250,000 births -- r_associated #0: 28 / 0.651 -> en:young-adult onset (18-30 years) of sensory ataxia
    n1=en:incidence of 1 in 250,000 births | n2=en:young-adult onset (18-30 years) of sensory ataxia | rel=r_associated | relid=0 | w=28
  4374. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> anomalie congénitale
    n1=en:incidence of 1 in 250,000 births | n2=anomalie congénitale | rel=r_associated | relid=0 | w=27
  4375. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:(2) juvenile or adolescent nephropathic (219900)
    n1=en:incidence of 1 in 250,000 births | n2=en:(2) juvenile or adolescent nephropathic (219900) | rel=r_associated | relid=0 | w=27
  4376. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age
    n1=en:incidence of 1 in 250,000 births | n2=en:10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age | rel=r_associated | relid=0 | w=27
  4377. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:40% patients have associated abnormalities
    n1=en:incidence of 1 in 250,000 births | n2=en:40% patients have associated abnormalities | rel=r_associated | relid=0 | w=27
  4378. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:5-10% of patients have a first degree relative with ibd (ulcerative colitis or crohn disease)
    n1=en:incidence of 1 in 250,000 births | n2=en:5-10% of patients have a first degree relative with ibd (ulcerative colitis or crohn disease) | rel=r_associated | relid=0 | w=27
  4379. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:50% of females have learning disability or mild mental retardation
    n1=en:incidence of 1 in 250,000 births | n2=en:50% of females have learning disability or mild mental retardation | rel=r_associated | relid=0 | w=27
  4380. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:a subset of patients improve with thiamine
    n1=en:incidence of 1 in 250,000 births | n2=en:a subset of patients improve with thiamine | rel=r_associated | relid=0 | w=27
  4381. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:about a dozen patients have been reported (as of march 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:about a dozen patients have been reported (as of march 2012) | rel=r_associated | relid=0 | w=27
  4382. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:about half of patients become wheelchair bound after long duration
    n1=en:incidence of 1 in 250,000 births | n2=en:about half of patients become wheelchair bound after long duration | rel=r_associated | relid=0 | w=27
  4383. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:about half of patients report vestibular symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:about half of patients report vestibular symptoms | rel=r_associated | relid=0 | w=27
  4384. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation'
    n1=en:incidence of 1 in 250,000 births | n2=en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation' | rel=r_associated | relid=0 | w=27
  4385. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:accounts for 70% of all usher syndrome patients
    n1=en:incidence of 1 in 250,000 births | n2=en:accounts for 70% of all usher syndrome patients | rel=r_associated | relid=0 | w=27
  4386. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:acetazolamide is often effective
    n1=en:incidence of 1 in 250,000 births | n2=en:acetazolamide is often effective | rel=r_associated | relid=0 | w=27
  4387. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:acute attacks rarely occur before puberty
    n1=en:incidence of 1 in 250,000 births | n2=en:acute attacks rarely occur before puberty | rel=r_associated | relid=0 | w=27
  4388. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:adult is an acronym for acro-dermato-ungual-lacrimal-tooth
    n1=en:incidence of 1 in 250,000 births | n2=en:adult is an acronym for acro-dermato-ungual-lacrimal-tooth | rel=r_associated | relid=0 | w=27
  4389. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:adult onset (mean of 30 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (mean of 30 years) | rel=r_associated | relid=0 | w=27
  4390. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:adult onset (second to sixth decade)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (second to sixth decade) | rel=r_associated | relid=0 | w=27
  4391. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:adult onset has been reported (age 50 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset has been reported (age 50 years) | rel=r_associated | relid=0 | w=27
  4392. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:affected males have onset of poor vision before the age of 2 years
    n1=en:incidence of 1 in 250,000 births | n2=en:affected males have onset of poor vision before the age of 2 years | rel=r_associated | relid=0 | w=27
  4393. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:age at diagnosis 2-4 months
    n1=en:incidence of 1 in 250,000 births | n2=en:age at diagnosis 2-4 months | rel=r_associated | relid=0 | w=27
  4394. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:age at diagnosis 26 +/- 14 years for recessive disease
    n1=en:incidence of 1 in 250,000 births | n2=en:age at diagnosis 26 +/- 14 years for recessive disease | rel=r_associated | relid=0 | w=27
  4395. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:age at menopause:time:point in time:^patient:quantitative
    n1=en:incidence of 1 in 250,000 births | n2=en:age at menopause:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=27
  4396. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:age at onset 15 to 25 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age at onset 15 to 25 years | rel=r_associated | relid=0 | w=27
  4397. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:age of onset 30 to 60 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset 30 to 60 years | rel=r_associated | relid=0 | w=27
  4398. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:age of onset of distal lower limb weakness 8-16 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset of distal lower limb weakness 8-16 years | rel=r_associated | relid=0 | w=27
  4399. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:all cases from a remote village, sabinas, in northern mexico
    n1=en:incidence of 1 in 250,000 births | n2=en:all cases from a remote village, sabinas, in northern mexico | rel=r_associated | relid=0 | w=27
  4400. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:all reported mutations have occurred de novo
    n1=en:incidence of 1 in 250,000 births | n2=en:all reported mutations have occurred de novo | rel=r_associated | relid=0 | w=27
  4401. en:incidence of 1 in 250,000 births -- 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:incidence of 1 in 250,000 births | 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
  4402. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:allelic disorder to branchiootorenal syndrome (bor, 113650) and otofaciocervical syndrome (166780)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to branchiootorenal syndrome (bor, 113650) and otofaciocervical syndrome (166780) | rel=r_associated | relid=0 | w=27
  4403. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:allelic disorder to charcot-marie-tooth disease type 1a (118220)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to charcot-marie-tooth disease type 1a (118220) | rel=r_associated | relid=0 | w=27
  4404. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:allelic disorder to charcot-marie-tooth disease type 2a2 (cmt2a2, 609260)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to charcot-marie-tooth disease type 2a2 (cmt2a2, 609260) | rel=r_associated | relid=0 | w=27
  4405. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, 604292)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, 604292) | rel=r_associated | relid=0 | w=27
  4406. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:allelic disorder to miyoshi muscular dystrophy 3 (mmd3, 613319)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to miyoshi muscular dystrophy 3 (mmd3, 613319) | rel=r_associated | relid=0 | w=27
  4407. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:allelic disorder to nf1
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to nf1 | rel=r_associated | relid=0 | w=27
  4408. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:allelic disorder to opitz-kaveggia syndrome (305450)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to opitz-kaveggia syndrome (305450) | rel=r_associated | relid=0 | w=27
  4409. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> 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:incidence of 1 in 250,000 births | 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=27
  4410. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:allelic disorders with overlapping phenotypes include dss, congenital hypomyelination (chn, 605253), and some forms of axonal cmt2 (see 607677)
    n1=en:incidence of 1 in 250,000 births | 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=27
  4411. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:allelic to acromesomelic dysplasia, hunter-thompson type (201250), brachydactyly, type c (113100), and fibular hypoplasia nd complex brachydactyly (228900)
    n1=en:incidence of 1 in 250,000 births | 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=27
  4412. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:allelic to adult syndrome (103285), shfm4 (605289), hay-wells syndrome (106260), and limb-mammary syndrome (603543)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to adult syndrome (103285), shfm4 (605289), hay-wells syndrome (106260), and limb-mammary syndrome (603543) | rel=r_associated | relid=0 | w=27
  4413. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:allelic to autosomal recessive pxe (264800)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to autosomal recessive pxe (264800) | rel=r_associated | relid=0 | w=27
  4414. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:allelic to deafness, autosomal recessive 23 (609533)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to deafness, autosomal recessive 23 (609533) | rel=r_associated | relid=0 | w=27
  4415. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), autosomal dominant osteosclerosis (144750), type i osteopetrosis (607634)
    n1=en:incidence of 1 in 250,000 births | 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=27
  4416. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:allelic to senior-loken syndrome 4 (606996)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to senior-loken syndrome 4 (606996) | rel=r_associated | relid=0 | w=27
  4417. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:allelic to several forms of autosomal recessive cmt (see 214400)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to several forms of autosomal recessive cmt (see 214400) | rel=r_associated | relid=0 | w=27
  4418. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:allelic to stickler syndrome, type 3 (184840) and osmed (215150)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to stickler syndrome, type 3 (184840) and osmed (215150) | rel=r_associated | relid=0 | w=27
  4419. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:allelic with dentinogenesis imperfecta 1 (125490) and dentin dysplasia, type ii (125420)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic with dentinogenesis imperfecta 1 (125490) and dentin dysplasia, type ii (125420) | rel=r_associated | relid=0 | w=27
  4420. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:almost all patients require total parenteral nutrition
    n1=en:incidence of 1 in 250,000 births | n2=en:almost all patients require total parenteral nutrition | rel=r_associated | relid=0 | w=27
  4421. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:anesthesia complications include difficult intubation secondary to microstomia and risk of malignant hyperthermia
    n1=en:incidence of 1 in 250,000 births | n2=en:anesthesia complications include difficult intubation secondary to microstomia and risk of malignant hyperthermia | rel=r_associated | relid=0 | w=27
  4422. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:appear normal at birth
    n1=en:incidence of 1 in 250,000 births | n2=en:appear normal at birth | rel=r_associated | relid=0 | w=27
  4423. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:approximately 10% of als cases are familial
    n1=en:incidence of 1 in 250,000 births | n2=en:approximately 10% of als cases are familial | rel=r_associated | relid=0 | w=27
  4424. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:approximately 40% of patients die within newborn period
    n1=en:incidence of 1 in 250,000 births | n2=en:approximately 40% of patients die within newborn period | rel=r_associated | relid=0 | w=27
  4425. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:approximately 50% of patients have situs inversus
    n1=en:incidence of 1 in 250,000 births | n2=en:approximately 50% of patients have situs inversus | rel=r_associated | relid=0 | w=27
  4426. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> 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:incidence of 1 in 250,000 births | 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=27
  4427. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:associated with tuberous sclerosis (191100)
    n1=en:incidence of 1 in 250,000 births | n2=en:associated with tuberous sclerosis (191100) | rel=r_associated | relid=0 | w=27
  4428. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:attack frequency may occur several times per week to once per year
    n1=en:incidence of 1 in 250,000 births | n2=en:attack frequency may occur several times per week to once per year | rel=r_associated | relid=0 | w=27
  4429. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:attacks more common in women
    n1=en:incidence of 1 in 250,000 births | n2=en:attacks more common in women | rel=r_associated | relid=0 | w=27
  4430. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:autosomal dominant inheritance is more common
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal dominant inheritance is more common | rel=r_associated | relid=0 | w=27
  4431. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:autosomal recessive inheritance has also been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal recessive inheritance has also been reported | rel=r_associated | relid=0 | w=27
  4432. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:average age at onset 19 years (range 5 to 38)
    n1=en:incidence of 1 in 250,000 births | n2=en:average age at onset 19 years (range 5 to 38) | rel=r_associated | relid=0 | w=27
  4433. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:based on 1 5-generation family (last curated january 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on 1 5-generation family (last curated january 2015) | rel=r_associated | relid=0 | w=27
  4434. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:based on 1 report of monozygotic twins (last curated may 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on 1 report of monozygotic twins (last curated may 2014) | rel=r_associated | relid=0 | w=27
  4435. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:based on report of one polish roma patient (last curated november 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on report of one polish roma patient (last curated november 2014) | rel=r_associated | relid=0 | w=27
  4436. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:begins in hands or feet, later generalized
    n1=en:incidence of 1 in 250,000 births | n2=en:begins in hands or feet, later generalized | rel=r_associated | relid=0 | w=27
  4437. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:birth rate of 7.6 per 1,000,000
    n1=en:incidence of 1 in 250,000 births | n2=en:birth rate of 7.6 per 1,000,000 | rel=r_associated | relid=0 | w=27
  4438. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:blistering frequency may decrease with age
    n1=en:incidence of 1 in 250,000 births | n2=en:blistering frequency may decrease with age | rel=r_associated | relid=0 | w=27
  4439. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:blistering tends to improve with age
    n1=en:incidence of 1 in 250,000 births | n2=en:blistering tends to improve with age | rel=r_associated | relid=0 | w=27
  4440. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:body habitus becomes apparent in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:body habitus becomes apparent in childhood | rel=r_associated | relid=0 | w=27
  4441. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:both autosomal dominant and autosomal recessive inheritance has been described
    n1=en:incidence of 1 in 250,000 births | n2=en:both autosomal dominant and autosomal recessive inheritance has been described | rel=r_associated | relid=0 | w=27
  4442. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:both homozygous and heterozygous ednrb mutations have been found
    n1=en:incidence of 1 in 250,000 births | n2=en:both homozygous and heterozygous ednrb mutations have been found | rel=r_associated | relid=0 | w=27
  4443. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:can be categorized into 3 groups
    n1=en:incidence of 1 in 250,000 births | n2=en:can be categorized into 3 groups | rel=r_associated | relid=0 | w=27
  4444. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:capillary malformation are apparent at birth
    n1=en:incidence of 1 in 250,000 births | n2=en:capillary malformation are apparent at birth | rel=r_associated | relid=0 | w=27
  4445. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:cardiac features are observed in ~3% of cases
    n1=en:incidence of 1 in 250,000 births | n2=en:cardiac features are observed in ~3% of cases | rel=r_associated | relid=0 | w=27
  4446. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:cardiac involvement occurs between 5 and 12 years
    n1=en:incidence of 1 in 250,000 births | n2=en:cardiac involvement occurs between 5 and 12 years | rel=r_associated | relid=0 | w=27
  4447. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:carrier females have arthralgias in middle age
    n1=en:incidence of 1 in 250,000 births | n2=en:carrier females have arthralgias in middle age | rel=r_associated | relid=0 | w=27
  4448. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:carrier frequency in finland is 1 in 230
    n1=en:incidence of 1 in 250,000 births | n2=en:carrier frequency in finland is 1 in 230 | rel=r_associated | relid=0 | w=27
  4449. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:carrier rate of 1 in 11 among old order amish
    n1=en:incidence of 1 in 250,000 births | n2=en:carrier rate of 1 in 11 among old order amish | rel=r_associated | relid=0 | w=27
  4450. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:cases reported in the old order amish and one japanese family (last curated april 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:cases reported in the old order amish and one japanese family (last curated april 2014) | rel=r_associated | relid=0 | w=27
  4451. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:caused by inheritance of the mutation on the maternal allele (imprinting)
    n1=en:incidence of 1 in 250,000 births | n2=en:caused by inheritance of the mutation on the maternal allele (imprinting) | rel=r_associated | relid=0 | w=27
  4452. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:changes more marked in hands than feet
    n1=en:incidence of 1 in 250,000 births | n2=en:changes more marked in hands than feet | rel=r_associated | relid=0 | w=27
  4453. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:chelation therapy can result in clinical improvement
    n1=en:incidence of 1 in 250,000 births | n2=en:chelation therapy can result in clinical improvement | rel=r_associated | relid=0 | w=27
  4454. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:childhood onset may occur
    n1=en:incidence of 1 in 250,000 births | n2=en:childhood onset may occur | rel=r_associated | relid=0 | w=27
  4455. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:children rarely develop the disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:children rarely develop the disorder | rel=r_associated | relid=0 | w=27
  4456. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:chromosome rearrangements gave been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:chromosome rearrangements gave been reported | rel=r_associated | relid=0 | w=27
  4457. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia
    n1=en:incidence of 1 in 250,000 births | n2=en:classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia | rel=r_associated | relid=0 | w=27
  4458. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad
    n1=en:incidence of 1 in 250,000 births | n2=en:classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad | rel=r_associated | relid=0 | w=27
  4459. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:clinical features may vary
    n1=en:incidence of 1 in 250,000 births | n2=en:clinical features may vary | rel=r_associated | relid=0 | w=27
  4460. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis
    n1=en:incidence of 1 in 250,000 births | n2=en:clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis | rel=r_associated | relid=0 | w=27
  4461. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:cold temeratures exacerbate symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:cold temeratures exacerbate symptoms | rel=r_associated | relid=0 | w=27
  4462. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty
    n1=en:incidence of 1 in 250,000 births | 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=27
  4463. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:congenital onset
    n1=en:incidence of 1 in 250,000 births | n2=en:congenital onset | rel=r_associated | relid=0 | w=27
  4464. en:incidence of 1 in 250,000 births -- 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:incidence of 1 in 250,000 births | 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
  4465. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:death before age 15 in iia
    n1=en:incidence of 1 in 250,000 births | n2=en:death before age 15 in iia | rel=r_associated | relid=0 | w=27
  4466. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:death in childhood secondary to malabsorption
    n1=en:incidence of 1 in 250,000 births | n2=en:death in childhood secondary to malabsorption | rel=r_associated | relid=0 | w=27
  4467. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:death in the fifth or sixth decade
    n1=en:incidence of 1 in 250,000 births | n2=en:death in the fifth or sixth decade | rel=r_associated | relid=0 | w=27
  4468. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:death in the first decade, usually from liver failure
    n1=en:incidence of 1 in 250,000 births | n2=en:death in the first decade, usually from liver failure | rel=r_associated | relid=0 | w=27
  4469. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:death in utero or in early infancy is common
    n1=en:incidence of 1 in 250,000 births | n2=en:death in utero or in early infancy is common | rel=r_associated | relid=0 | w=27
  4470. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:death occurs 10 to 20 years after onset
    n1=en:incidence of 1 in 250,000 births | n2=en:death occurs 10 to 20 years after onset | rel=r_associated | relid=0 | w=27
  4471. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:death often occurs in the first decade
    n1=en:incidence of 1 in 250,000 births | n2=en:death often occurs in the first decade | rel=r_associated | relid=0 | w=27
  4472. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:death within first months or years of life
    n1=en:incidence of 1 in 250,000 births | n2=en:death within first months or years of life | rel=r_associated | relid=0 | w=27
  4473. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:decreased penetrance
    n1=en:incidence of 1 in 250,000 births | n2=en:decreased penetrance | rel=r_associated | relid=0 | w=27
  4474. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:delayed psychomotor development apparent in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:delayed psychomotor development apparent in infancy | rel=r_associated | relid=0 | w=27
  4475. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:described in individuals of jewish bukharian descent
    n1=en:incidence of 1 in 250,000 births | n2=en:described in individuals of jewish bukharian descent | rel=r_associated | relid=0 | w=27
  4476. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:digenic form caused by heterozygous mutations in both nek1 (604588) and dyn2ch1 (603297)
    n1=en:incidence of 1 in 250,000 births | n2=en:digenic form caused by heterozygous mutations in both nek1 (604588) and dyn2ch1 (603297) | rel=r_associated | relid=0 | w=27
  4477. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:digenic form type id/f caused by digenic mutation in the cdh23 (605516) and pcdh15 genes
    n1=en:incidence of 1 in 250,000 births | n2=en:digenic form type id/f caused by digenic mutation in the cdh23 (605516) and pcdh15 genes | rel=r_associated | relid=0 | w=27
  4478. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis
    n1=en:incidence of 1 in 250,000 births | 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=27
  4479. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:disorders with overlapping phenotypes can be caused by mutation in the keratin-14 gene (148066)
    n1=en:incidence of 1 in 250,000 births | n2=en:disorders with overlapping phenotypes can be caused by mutation in the keratin-14 gene (148066) | rel=r_associated | relid=0 | w=27
  4480. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:distinct disorder from familial limb-girdle myasthenia (254200)
    n1=en:incidence of 1 in 250,000 births | n2=en:distinct disorder from familial limb-girdle myasthenia (254200) | rel=r_associated | relid=0 | w=27
  4481. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:diurnal fluctuation of symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:diurnal fluctuation of symptoms | rel=r_associated | relid=0 | w=27
  4482. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications
    n1=en:incidence of 1 in 250,000 births | n2=en:duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications | rel=r_associated | relid=0 | w=27
  4483. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:dysmorphic facial features may not be present
    n1=en:incidence of 1 in 250,000 births | n2=en:dysmorphic facial features may not be present | rel=r_associated | relid=0 | w=27
  4484. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:dysmorphic features are variable
    n1=en:incidence of 1 in 250,000 births | n2=en:dysmorphic features are variable | rel=r_associated | relid=0 | w=27
  4485. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:early age of onset (approximately 45 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:early age of onset (approximately 45 years) | rel=r_associated | relid=0 | w=27
  4486. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:early death (usually by 3 years of age)
    n1=en:incidence of 1 in 250,000 births | n2=en:early death (usually by 3 years of age) | rel=r_associated | relid=0 | w=27
  4487. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:early death from infection may occur
    n1=en:incidence of 1 in 250,000 births | n2=en:early death from infection may occur | rel=r_associated | relid=0 | w=27
  4488. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:early death in the first few weeks of life
    n1=en:incidence of 1 in 250,000 births | n2=en:early death in the first few weeks of life | rel=r_associated | relid=0 | w=27
  4489. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:early onset of peripheral neuropathy (mean 2.1 years, range 1 to 10 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:early onset of peripheral neuropathy (mean 2.1 years, range 1 to 10 years) | rel=r_associated | relid=0 | w=27
  4490. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:early-onset severe renal disease
    n1=en:incidence of 1 in 250,000 births | n2=en:early-onset severe renal disease | rel=r_associated | relid=0 | w=27
  4491. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported
    n1=en:incidence of 1 in 250,000 births | n2=en:end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported | rel=r_associated | relid=0 | w=27
  4492. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:episodes may be precipitated by fear, unexpected noises, emotional responses, movement
    n1=en:incidence of 1 in 250,000 births | n2=en:episodes may be precipitated by fear, unexpected noises, emotional responses, movement | rel=r_associated | relid=0 | w=27
  4493. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:episodes triggered by fasting, illness, fever
    n1=en:incidence of 1 in 250,000 births | n2=en:episodes triggered by fasting, illness, fever | rel=r_associated | relid=0 | w=27
  4494. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:estimated carrier frequency of 10-25% in yarmouth county, nova scotia
    n1=en:incidence of 1 in 250,000 births | n2=en:estimated carrier frequency of 10-25% in yarmouth county, nova scotia | rel=r_associated | relid=0 | w=27
  4495. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:estimated mutation carrier rate of 1 in 350
    n1=en:incidence of 1 in 250,000 births | n2=en:estimated mutation carrier rate of 1 in 350 | rel=r_associated | relid=0 | w=27
  4496. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:exacerbations during infection
    n1=en:incidence of 1 in 250,000 births | n2=en:exacerbations during infection | rel=r_associated | relid=0 | w=27
  4497. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:familial occurrence is rare
    n1=en:incidence of 1 in 250,000 births | n2=en:familial occurrence is rare | rel=r_associated | relid=0 | w=27
  4498. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:favorable response to acetylcholinesterase inhibitors
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to acetylcholinesterase inhibitors | rel=r_associated | relid=0 | w=27
  4499. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:favorable response to anticonvulsants
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to anticonvulsants | rel=r_associated | relid=0 | w=27
  4500. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:favorable response to bh4
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to bh4 | rel=r_associated | relid=0 | w=27
  4501. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:favorable response to flunarizine
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to flunarizine | rel=r_associated | relid=0 | w=27
  4502. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:favorable response to high-dose steroids
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to high-dose steroids | rel=r_associated | relid=0 | w=27
  4503. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:features intermediate between demyelinating cmt and axonal cmt
    n1=en:incidence of 1 in 250,000 births | n2=en:features intermediate between demyelinating cmt and axonal cmt | rel=r_associated | relid=0 | w=27
  4504. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:febrile seizures remit by age 5 or 6
    n1=en:incidence of 1 in 250,000 births | n2=en:febrile seizures remit by age 5 or 6 | rel=r_associated | relid=0 | w=27
  4505. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:feeding difficulties in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:feeding difficulties in infancy | rel=r_associated | relid=0 | w=27
  4506. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:female carriers may have asymptomatic proteinuria or hypercalciuria
    n1=en:incidence of 1 in 250,000 births | n2=en:female carriers may have asymptomatic proteinuria or hypercalciuria | rel=r_associated | relid=0 | w=27
  4507. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:female carriers may show some manifestations, such as hearing impairment
    n1=en:incidence of 1 in 250,000 births | n2=en:female carriers may show some manifestations, such as hearing impairment | rel=r_associated | relid=0 | w=27
  4508. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:females often show milder phenotype with later onset of cardiac symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:females often show milder phenotype with later onset of cardiac symptoms | rel=r_associated | relid=0 | w=27
  4509. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:few patients with mild to moderate mental retardation
    n1=en:incidence of 1 in 250,000 births | n2=en:few patients with mild to moderate mental retardation | rel=r_associated | relid=0 | w=27
  4510. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:first name:pn:pt:^guardian or legally authorized representative:nom
    n1=en:incidence of 1 in 250,000 births | n2=en:first name:pn:pt:^guardian or legally authorized representative:nom | rel=r_associated | relid=0 | w=27
  4511. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:five patients have been reported (last curated december 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:five patients have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=27
  4512. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:five unrelated patients have been reported (last curated july 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:five unrelated patients have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=27
  4513. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:forty percent of patients die in the first year
    n1=en:incidence of 1 in 250,000 births | n2=en:forty percent of patients die in the first year | rel=r_associated | relid=0 | w=27
  4514. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:founder effect in turkish families
    n1=en:incidence of 1 in 250,000 births | n2=en:founder effect in turkish families | rel=r_associated | relid=0 | w=27
  4515. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:four families have been reported (last curated june 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:four families have been reported (last curated june 2011) | rel=r_associated | relid=0 | w=27
  4516. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:four major groups: early infantile, late infantile, juvenile, adult
    n1=en:incidence of 1 in 250,000 births | n2=en:four major groups: early infantile, late infantile, juvenile, adult | rel=r_associated | relid=0 | w=27
  4517. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:four patients from 3 families have been reported (last curated september 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:four patients from 3 families have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=27
  4518. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:four patients have been reported (as of july 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:four patients have been reported (as of july 2011) | rel=r_associated | relid=0 | w=27
  4519. en:incidence of 1 in 250,000 births -- 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:incidence of 1 in 250,000 births | 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
  4520. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:frequent falls
    n1=en:incidence of 1 in 250,000 births | n2=en:frequent falls | rel=r_associated | relid=0 | w=27
  4521. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:frequent new mutations (~86%) and/or gonadal mosaicism in tsc1
    n1=en:incidence of 1 in 250,000 births | n2=en:frequent new mutations (~86%) and/or gonadal mosaicism in tsc1 | rel=r_associated | relid=0 | w=27
  4522. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:frequently fatal within the first year of life
    n1=en:incidence of 1 in 250,000 births | n2=en:frequently fatal within the first year of life | rel=r_associated | relid=0 | w=27
  4523. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:gei (gene-environment interaction) - association of cardiac events with drug administration
    n1=en:incidence of 1 in 250,000 births | n2=en:gei (gene-environment interaction) - association of cardiac events with drug administration | rel=r_associated | relid=0 | w=27
  4524. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see cmt4b1, 601382)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see cmt4b1, 601382) | rel=r_associated | relid=0 | w=27
  4525. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see coxpd1, 609060)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see coxpd1, 609060) | rel=r_associated | relid=0 | w=27
  4526. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see eca1, 600131 and eca3, 607682)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see eca1, 600131 and eca3, 607682) | rel=r_associated | relid=0 | w=27
  4527. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see, e.g., cmtdib 606482, cmtdid 607791)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see, e.g., cmtdib 606482, cmtdid 607791) | rel=r_associated | relid=0 | w=27
  4528. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see, e.g., nys1 310700, nys2 164100, nys4 193003)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see, e.g., nys1 310700, nys2 164100, nys4 193003) | rel=r_associated | relid=0 | w=27
  4529. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity, see also pfic2 (601847), pfic3 (602347)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity, see also pfic2 (601847), pfic3 (602347) | rel=r_associated | relid=0 | w=27
  4530. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity, see fhm1 141500
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity, see fhm1 141500 | rel=r_associated | relid=0 | w=27
  4531. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:global developmental delay
    n1=en:incidence of 1 in 250,000 births | n2=en:global developmental delay | rel=r_associated | relid=0 | w=27
  4532. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:gradual spontaneous improvement in the first year of life
    n1=en:incidence of 1 in 250,000 births | n2=en:gradual spontaneous improvement in the first year of life | rel=r_associated | relid=0 | w=27
  4533. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma)
    n1=en:incidence of 1 in 250,000 births | n2=en:has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma) | rel=r_associated | relid=0 | w=27
  4534. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:health data repository:id:pt:repository:nom
    n1=en:incidence of 1 in 250,000 births | n2=en:health data repository:id:pt:repository:nom | rel=r_associated | relid=0 | w=27
  4535. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:hearing impairment may improve with age
    n1=en:incidence of 1 in 250,000 births | n2=en:hearing impairment may improve with age | rel=r_associated | relid=0 | w=27
  4536. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:hearing loss occurs in late childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:hearing loss occurs in late childhood | rel=r_associated | relid=0 | w=27
  4537. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:heterogeneous disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:heterogeneous disorder | rel=r_associated | relid=0 | w=27
  4538. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:heterozygotes have half-normal levels of apob-containing lipoproteins
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygotes have half-normal levels of apob-containing lipoproteins | rel=r_associated | relid=0 | w=27
  4539. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss | rel=r_associated | relid=0 | w=27
  4540. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700)
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700) | rel=r_associated | relid=0 | w=27
  4541. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:heterozygous carriers have an increased risk of metabolic dysfunction
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygous carriers have an increased risk of metabolic dysfunction | rel=r_associated | relid=0 | w=27
  4542. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:heterozygous females may exhibit variable degrees of enzyme deficiency
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygous females may exhibit variable degrees of enzyme deficiency | rel=r_associated | relid=0 | w=27
  4543. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:high frequency in equatorial africa
    n1=en:incidence of 1 in 250,000 births | n2=en:high frequency in equatorial africa | rel=r_associated | relid=0 | w=27
  4544. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:high frequency in southern india (7% of all epilepsies)
    n1=en:incidence of 1 in 250,000 births | n2=en:high frequency in southern india (7% of all epilepsies) | rel=r_associated | relid=0 | w=27
  4545. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:high frequency of de novo mutations
    n1=en:incidence of 1 in 250,000 births | n2=en:high frequency of de novo mutations | rel=r_associated | relid=0 | w=27
  4546. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:high incidence among ashkenazi jews
    n1=en:incidence of 1 in 250,000 births | n2=en:high incidence among ashkenazi jews | rel=r_associated | relid=0 | w=27
  4547. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:high incidence in sweden and finland
    n1=en:incidence of 1 in 250,000 births | n2=en:high incidence in sweden and finland | rel=r_associated | relid=0 | w=27
  4548. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:high prevalence in japan
    n1=en:incidence of 1 in 250,000 births | n2=en:high prevalence in japan | rel=r_associated | relid=0 | w=27
  4549. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence
    n1=en:incidence of 1 in 250,000 births | n2=en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence | rel=r_associated | relid=0 | w=27
  4550. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup
    n1=en:incidence of 1 in 250,000 births | n2=en:hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup | rel=r_associated | relid=0 | w=27
  4551. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> 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:incidence of 1 in 250,000 births | 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=27
  4552. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:homozygotes have more severe disease with earlier onset of thrombosis
    n1=en:incidence of 1 in 250,000 births | n2=en:homozygotes have more severe disease with earlier onset of thrombosis | rel=r_associated | relid=0 | w=27
  4553. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:hyperkeratosis often present at birth but may appear later
    n1=en:incidence of 1 in 250,000 births | n2=en:hyperkeratosis often present at birth but may appear later | rel=r_associated | relid=0 | w=27
  4554. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:incidence - 1 in 25,000-100,000
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence - 1 in 25,000-100,000 | rel=r_associated | relid=0 | w=27
  4555. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:incidence 1 in 30,000 male births
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence 1 in 30,000 male births | rel=r_associated | relid=0 | w=27
  4556. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:incidence 1/20,000-1/64,000 male births
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence 1/20,000-1/64,000 male births | rel=r_associated | relid=0 | w=27
  4557. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:incidence approximately 2-3/10,000 newborns
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence approximately 2-3/10,000 newborns | rel=r_associated | relid=0 | w=27
  4558. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:incidence in the finnish population of 0.2-1.3 cases per million per year
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence in the finnish population of 0.2-1.3 cases per million per year | rel=r_associated | relid=0 | w=27
  4559. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:incidence of 1 in 5,000-8,000
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 5,000-8,000 | rel=r_associated | relid=0 | w=27
  4560. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:incomplete penetrance with 45 to 51 repeats
    n1=en:incidence of 1 in 250,000 births | n2=en:incomplete penetrance with 45 to 51 repeats | rel=r_associated | relid=0 | w=27
  4561. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:incomplete, but high, penetrance
    n1=en:incidence of 1 in 250,000 births | n2=en:incomplete, but high, penetrance | rel=r_associated | relid=0 | w=27
  4562. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:increased bleeding after surgery
    n1=en:incidence of 1 in 250,000 births | n2=en:increased bleeding after surgery | rel=r_associated | relid=0 | w=27
  4563. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:increased frequency among jewish iranian individuals from isfahan
    n1=en:incidence of 1 in 250,000 births | n2=en:increased frequency among jewish iranian individuals from isfahan | rel=r_associated | relid=0 | w=27
  4564. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:increased frequency in eastern pennsylvania amish
    n1=en:incidence of 1 in 250,000 births | n2=en:increased frequency in eastern pennsylvania amish | rel=r_associated | relid=0 | w=27
  4565. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:increased frequency in finland (incidence 1:60,000 finnish newborns)
    n1=en:incidence of 1 in 250,000 births | n2=en:increased frequency in finland (incidence 1:60,000 finnish newborns) | rel=r_associated | relid=0 | w=27
  4566. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:increased prevalence in individuals of turkish descent
    n1=en:incidence of 1 in 250,000 births | n2=en:increased prevalence in individuals of turkish descent | rel=r_associated | relid=0 | w=27
  4567. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:increased risk of myeloproliferative disorders in those with somatic mutations
    n1=en:incidence of 1 in 250,000 births | n2=en:increased risk of myeloproliferative disorders in those with somatic mutations | rel=r_associated | relid=0 | w=27
  4568. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:infantile onset (in 1 patient)
    n1=en:incidence of 1 in 250,000 births | n2=en:infantile onset (in 1 patient) | rel=r_associated | relid=0 | w=27
  4569. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:initial recovery, but residual neurologic impairment occurs after repeated encephalopathic episodes
    n1=en:incidence of 1 in 250,000 births | n2=en:initial recovery, but residual neurologic impairment occurs after repeated encephalopathic episodes | rel=r_associated | relid=0 | w=27
  4570. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:intermittent exacerbations
    n1=en:incidence of 1 in 250,000 births | n2=en:intermittent exacerbations | rel=r_associated | relid=0 | w=27
  4571. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:intrafamilial variability in nail changes
    n1=en:incidence of 1 in 250,000 births | n2=en:intrafamilial variability in nail changes | rel=r_associated | relid=0 | w=27
  4572. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:involuntary and nonvolitional phenomenon
    n1=en:incidence of 1 in 250,000 births | n2=en:involuntary and nonvolitional phenomenon | rel=r_associated | relid=0 | w=27
  4573. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:itch, pain, and body malodor often
    n1=en:incidence of 1 in 250,000 births | n2=en:itch, pain, and body malodor often | rel=r_associated | relid=0 | w=27
  4574. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:keratitis-ichthyosis-deafness syndrome
    n1=en:incidence of 1 in 250,000 births | n2=en:keratitis-ichthyosis-deafness syndrome | rel=r_associated | relid=0 | w=27
  4575. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:laboratory director name:pn:pt:provider:nom
    n1=en:incidence of 1 in 250,000 births | n2=en:laboratory director name:pn:pt:provider:nom | rel=r_associated | relid=0 | w=27
  4576. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:late infantile form has onset between 19 months and 4 years
    n1=en:incidence of 1 in 250,000 births | n2=en:late infantile form has onset between 19 months and 4 years | rel=r_associated | relid=0 | w=27
  4577. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:late infantile onset 6-24 months
    n1=en:incidence of 1 in 250,000 births | n2=en:late infantile onset 6-24 months | rel=r_associated | relid=0 | w=27
  4578. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:lesions are present at birth or become apparent in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:lesions are present at birth or become apparent in infancy | rel=r_associated | relid=0 | w=27
  4579. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:levodopa-responsive
    n1=en:incidence of 1 in 250,000 births | n2=en:levodopa-responsive | rel=r_associated | relid=0 | w=27
  4580. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:lifetime risk of breast cancer in male mutation carriers in 6%
    n1=en:incidence of 1 in 250,000 births | n2=en:lifetime risk of breast cancer in male mutation carriers in 6% | rel=r_associated | relid=0 | w=27
  4581. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:lifetime risk of breast cancer in mutation carriers is 60 to 85%
    n1=en:incidence of 1 in 250,000 births | n2=en:lifetime risk of breast cancer in mutation carriers is 60 to 85% | rel=r_associated | relid=0 | w=27
  4582. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:limb-girdle muscular dystrophy 1a (lgmd1a, 159000) is an allelic disorder with overlapping clinical features
    n1=en:incidence of 1 in 250,000 births | n2=en:limb-girdle muscular dystrophy 1a (lgmd1a, 159000) is an allelic disorder with overlapping clinical features | rel=r_associated | relid=0 | w=27
  4583. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:live born infants die within few hours of birth
    n1=en:incidence of 1 in 250,000 births | n2=en:live born infants die within few hours of birth | rel=r_associated | relid=0 | w=27
  4584. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:liver size returns to normal after 3 months to 3 years
    n1=en:incidence of 1 in 250,000 births | n2=en:liver size returns to normal after 3 months to 3 years | rel=r_associated | relid=0 | w=27
  4585. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:liver symptoms improve with age and disappear after puberty
    n1=en:incidence of 1 in 250,000 births | n2=en:liver symptoms improve with age and disappear after puberty | rel=r_associated | relid=0 | w=27
  4586. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:lmd is the homozygous form of the less severe leri-weill dyschondrosteosis (127300)
    n1=en:incidence of 1 in 250,000 births | n2=en:lmd is the homozygous form of the less severe leri-weill dyschondrosteosis (127300) | rel=r_associated | relid=0 | w=27
  4587. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:long headache duration (greater than 12 hours)
    n1=en:incidence of 1 in 250,000 births | n2=en:long headache duration (greater than 12 hours) | rel=r_associated | relid=0 | w=27
  4588. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:loss of independent ambulation (in 2 of 3 patients)
    n1=en:incidence of 1 in 250,000 births | n2=en:loss of independent ambulation (in 2 of 3 patients) | rel=r_associated | relid=0 | w=27
  4589. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:lower limb involvement precedes upper limb involvement
    n1=en:incidence of 1 in 250,000 births | n2=en:lower limb involvement precedes upper limb involvement | rel=r_associated | relid=0 | w=27
  4590. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:luton and torrance type differentiated based on histologic findings in cartilage
    n1=en:incidence of 1 in 250,000 births | n2=en:luton and torrance type differentiated based on histologic findings in cartilage | rel=r_associated | relid=0 | w=27
  4591. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:majority are stillborn or die in early neonatal period
    n1=en:incidence of 1 in 250,000 births | n2=en:majority are stillborn or die in early neonatal period | rel=r_associated | relid=0 | w=27
  4592. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:majority cases are sporadic
    n1=en:incidence of 1 in 250,000 births | n2=en:majority cases are sporadic | rel=r_associated | relid=0 | w=27
  4593. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:majority die in neonatal period secondary to respiratory insufficiency
    n1=en:incidence of 1 in 250,000 births | n2=en:majority die in neonatal period secondary to respiratory insufficiency | rel=r_associated | relid=0 | w=27
  4594. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:majority of cases are secondary to de novo mutation
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of cases are secondary to de novo mutation | rel=r_associated | relid=0 | w=27
  4595. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:majority of cases from middle eastern countries
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of cases from middle eastern countries | rel=r_associated | relid=0 | w=27
  4596. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:majority of cases in japan
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of cases in japan | rel=r_associated | relid=0 | w=27
  4597. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:male patients have more severe disease than female patients
    n1=en:incidence of 1 in 250,000 births | n2=en:male patients have more severe disease than female patients | rel=r_associated | relid=0 | w=27
  4598. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:male predominance of 3:1 to 5:1
    n1=en:incidence of 1 in 250,000 births | n2=en:male predominance of 3:1 to 5:1 | rel=r_associated | relid=0 | w=27
  4599. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:male to female ratio 4:1
    n1=en:incidence of 1 in 250,000 births | n2=en:male to female ratio 4:1 | rel=r_associated | relid=0 | w=27
  4600. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:male-to-female ratio 3 to 1
    n1=en:incidence of 1 in 250,000 births | n2=en:male-to-female ratio 3 to 1 | rel=r_associated | relid=0 | w=27
  4601. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders
    n1=en:incidence of 1 in 250,000 births | 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=27
  4602. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:many cases are asymptomatic
    n1=en:incidence of 1 in 250,000 births | n2=en:many cases are asymptomatic | rel=r_associated | relid=0 | w=27
  4603. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:many cases due to de novo mutation or chromosome aberration
    n1=en:incidence of 1 in 250,000 births | n2=en:many cases due to de novo mutation or chromosome aberration | rel=r_associated | relid=0 | w=27
  4604. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:many patients are asymptomatic
    n1=en:incidence of 1 in 250,000 births | n2=en:many patients are asymptomatic | rel=r_associated | relid=0 | w=27
  4605. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:marked clinical heterogeneity
    n1=en:incidence of 1 in 250,000 births | n2=en:marked clinical heterogeneity | rel=r_associated | relid=0 | w=27
  4606. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:marked clinical variability within families
    n1=en:incidence of 1 in 250,000 births | n2=en:marked clinical variability within families | rel=r_associated | relid=0 | w=27
  4607. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:marshall syndrome is allelic to stickler syndrome, type 2 (604841)
    n1=en:incidence of 1 in 250,000 births | n2=en:marshall syndrome is allelic to stickler syndrome, type 2 (604841) | rel=r_associated | relid=0 | w=27
  4608. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:maternal breast milk is protective
    n1=en:incidence of 1 in 250,000 births | n2=en:maternal breast milk is protective | rel=r_associated | relid=0 | w=27
  4609. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:maternal imprinting of sgce results in reduced penetrance of the disorder when the mutation is inherited from the mother
    n1=en:incidence of 1 in 250,000 births | 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=27
  4610. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, 604233)
    n1=en:incidence of 1 in 250,000 births | n2=en:may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, 604233) | rel=r_associated | relid=0 | w=27
  4611. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:may be lethal in infancy if untreated
    n1=en:incidence of 1 in 250,000 births | n2=en:may be lethal in infancy if untreated | rel=r_associated | relid=0 | w=27
  4612. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:may have seasonal variance in severity
    n1=en:incidence of 1 in 250,000 births | n2=en:may have seasonal variance in severity | rel=r_associated | relid=0 | w=27
  4613. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:may not be clinically manifest until middle life
    n1=en:incidence of 1 in 250,000 births | n2=en:may not be clinically manifest until middle life | rel=r_associated | relid=0 | w=27
  4614. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:mean age at onset 28 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset 28 years | rel=r_associated | relid=0 | w=27
  4615. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:mean age at onset 32 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset 32 years | rel=r_associated | relid=0 | w=27
  4616. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:mean age at onset 57-60 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset 57-60 years | rel=r_associated | relid=0 | w=27
  4617. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:mean age at onset of bone fractures, 24 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset of bone fractures, 24 years | rel=r_associated | relid=0 | w=27
  4618. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:mean age of death is 34 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age of death is 34 years | rel=r_associated | relid=0 | w=27
  4619. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:mean age of onset 30 years (range 25-42)
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age of onset 30 years (range 25-42) | rel=r_associated | relid=0 | w=27
  4620. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:mental development worsens after onset of seizures
    n1=en:incidence of 1 in 250,000 births | n2=en:mental development worsens after onset of seizures | rel=r_associated | relid=0 | w=27
  4621. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:mental retardation likely secondary to neonatal hypoxia
    n1=en:incidence of 1 in 250,000 births | n2=en:mental retardation likely secondary to neonatal hypoxia | rel=r_associated | relid=0 | w=27
  4622. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:mild features such as digital clubbing may be apparent in older heterozygotes
    n1=en:incidence of 1 in 250,000 births | n2=en:mild features such as digital clubbing may be apparent in older heterozygotes | rel=r_associated | relid=0 | w=27
  4623. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:mild phenotype onset - 11-18 months
    n1=en:incidence of 1 in 250,000 births | n2=en:mild phenotype onset - 11-18 months | rel=r_associated | relid=0 | w=27
  4624. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:mild symptoms may occur in teenage years
    n1=en:incidence of 1 in 250,000 births | n2=en:mild symptoms may occur in teenage years | rel=r_associated | relid=0 | w=27
  4625. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:mild to severe forms of disease
    n1=en:incidence of 1 in 250,000 births | n2=en:mild to severe forms of disease | rel=r_associated | relid=0 | w=27
  4626. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:minimum duplication includes bhlha9 (615416)
    n1=en:incidence of 1 in 250,000 births | n2=en:minimum duplication includes bhlha9 (615416) | rel=r_associated | relid=0 | w=27
  4627. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:mliii is a heterogeneous disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:mliii is a heterogeneous disorder | rel=r_associated | relid=0 | w=27
  4628. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:more frequent in individuals of asian descent
    n1=en:incidence of 1 in 250,000 births | n2=en:more frequent in individuals of asian descent | rel=r_associated | relid=0 | w=27
  4629. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:mortality, premature
    n1=en:incidence of 1 in 250,000 births | n2=en:mortality, premature | rel=r_associated | relid=0 | w=27
  4630. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:most have onset in first or second decade
    n1=en:incidence of 1 in 250,000 births | n2=en:most have onset in first or second decade | rel=r_associated | relid=0 | w=27
  4631. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:most patients appear unaffected in the first year of life
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients appear unaffected in the first year of life | rel=r_associated | relid=0 | w=27
  4632. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:most patients become seizure-free by age 3 or 4 years
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients become seizure-free by age 3 or 4 years | rel=r_associated | relid=0 | w=27
  4633. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:most patients die within the first year of life
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients die within the first year of life | rel=r_associated | relid=0 | w=27
  4634. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:most patients have severe streptococcus pneumoniae infections
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients have severe streptococcus pneumoniae infections | rel=r_associated | relid=0 | w=27
  4635. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:most patients need hip replacement by their mid-thirties
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients need hip replacement by their mid-thirties | rel=r_associated | relid=0 | w=27
  4636. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:most patients remain ambulatory
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients remain ambulatory | rel=r_associated | relid=0 | w=27
  4637. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:motor fluctuations
    n1=en:incidence of 1 in 250,000 births | n2=en:motor fluctuations | rel=r_associated | relid=0 | w=27
  4638. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:mucocutaneous immunodeficiency syndrome may be prominent
    n1=en:incidence of 1 in 250,000 births | n2=en:mucocutaneous immunodeficiency syndrome may be prominent | rel=r_associated | relid=0 | w=27
  4639. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:muscle weakness occurs only in the presence of hyperthyroidism
    n1=en:incidence of 1 in 250,000 births | n2=en:muscle weakness occurs only in the presence of hyperthyroidism | rel=r_associated | relid=0 | w=27
  4640. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age
    n1=en:incidence of 1 in 250,000 births | 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=27
  4641. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:mutations show partial penetrance
    n1=en:incidence of 1 in 250,000 births | n2=en:mutations show partial penetrance | rel=r_associated | relid=0 | w=27
  4642. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:myotilinopathy (609200) is an allelic disorder with overlapping clinical features
    n1=en:incidence of 1 in 250,000 births | n2=en:myotilinopathy (609200) is an allelic disorder with overlapping clinical features | rel=r_associated | relid=0 | w=27
  4643. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:nails appear normal at birth, with dystrophic changes developing within the first decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:nails appear normal at birth, with dystrophic changes developing within the first decade of life | rel=r_associated | relid=0 | w=27
  4644. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time)
    n1=en:incidence of 1 in 250,000 births | n2=en:negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time) | rel=r_associated | relid=0 | w=27
  4645. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:neonatal death secondary to pulmonary insufficiency
    n1=en:incidence of 1 in 250,000 births | n2=en:neonatal death secondary to pulmonary insufficiency | rel=r_associated | relid=0 | w=27
  4646. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:neurologic dysfunction is infrequent and associated with delayed diagnosis
    n1=en:incidence of 1 in 250,000 births | n2=en:neurologic dysfunction is infrequent and associated with delayed diagnosis | rel=r_associated | relid=0 | w=27
  4647. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:neurologic signs last hours to days
    n1=en:incidence of 1 in 250,000 births | n2=en:neurologic signs last hours to days | rel=r_associated | relid=0 | w=27
  4648. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:neurologic signs onset during adolescence or young adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:neurologic signs onset during adolescence or young adulthood | rel=r_associated | relid=0 | w=27
  4649. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:neuropsychiatric manifestations are variable
    n1=en:incidence of 1 in 250,000 births | n2=en:neuropsychiatric manifestations are variable | rel=r_associated | relid=0 | w=27
  4650. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:no clinical description given for 1 reported patient (last curated december 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:no clinical description given for 1 reported patient (last curated december 2013) | rel=r_associated | relid=0 | w=27
  4651. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:no predisposition to skin tumor development
    n1=en:incidence of 1 in 250,000 births | n2=en:no predisposition to skin tumor development | rel=r_associated | relid=0 | w=27
  4652. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 hz)
    n1=en:incidence of 1 in 250,000 births | n2=en:noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 hz) | rel=r_associated | relid=0 | w=27
  4653. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:nonpenetrance has been observed
    n1=en:incidence of 1 in 250,000 births | n2=en:nonpenetrance has been observed | rel=r_associated | relid=0 | w=27
  4654. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:normal - 5 to 37 copies of (ctg)n repeat in dmpk (605377)
    n1=en:incidence of 1 in 250,000 births | n2=en:normal - 5 to 37 copies of (ctg)n repeat in dmpk (605377) | rel=r_associated | relid=0 | w=27
  4655. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:normal alleles contain 6 to 28 repeats
    n1=en:incidence of 1 in 250,000 births | n2=en:normal alleles contain 6 to 28 repeats | rel=r_associated | relid=0 | w=27
  4656. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:normal alleles have 25 to 44 repeats
    n1=en:incidence of 1 in 250,000 births | n2=en:normal alleles have 25 to 44 repeats | rel=r_associated | relid=0 | w=27
  4657. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:normal alleles have 4 to 18 repeats
    n1=en:incidence of 1 in 250,000 births | n2=en:normal alleles have 4 to 18 repeats | rel=r_associated | relid=0 | w=27
  4658. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:normal first month
    n1=en:incidence of 1 in 250,000 births | n2=en:normal first month | rel=r_associated | relid=0 | w=27
  4659. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:normal neonatal blood phenylalanine has been reported in rare patients
    n1=en:incidence of 1 in 250,000 births | n2=en:normal neonatal blood phenylalanine has been reported in rare patients | rel=r_associated | relid=0 | w=27
  4660. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:occurs more frequently in females
    n1=en:incidence of 1 in 250,000 births | n2=en:occurs more frequently in females | rel=r_associated | relid=0 | w=27
  4661. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:occurs much more commonly in women
    n1=en:incidence of 1 in 250,000 births | n2=en:occurs much more commonly in women | rel=r_associated | relid=0 | w=27
  4662. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:ocular abnormalities may be very mild
    n1=en:incidence of 1 in 250,000 births | n2=en:ocular abnormalities may be very mild | rel=r_associated | relid=0 | w=27
  4663. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:oculomotor apraxia is not always present
    n1=en:incidence of 1 in 250,000 births | n2=en:oculomotor apraxia is not always present | rel=r_associated | relid=0 | w=27
  4664. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:often associated with chiari type i malformation (cm1, 118420)
    n1=en:incidence of 1 in 250,000 births | n2=en:often associated with chiari type i malformation (cm1, 118420) | rel=r_associated | relid=0 | w=27
  4665. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:often associated with klippel-feil anomaly (118100)
    n1=en:incidence of 1 in 250,000 births | n2=en:often associated with klippel-feil anomaly (118100) | rel=r_associated | relid=0 | w=27
  4666. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:older individuals had moderate to severe hearing loss
    n1=en:incidence of 1 in 250,000 births | n2=en:older individuals had moderate to severe hearing loss | rel=r_associated | relid=0 | w=27
  4667. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:one child has been reported (as of october 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:one child has been reported (as of october 2011) | rel=r_associated | relid=0 | w=27
  4668. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:one chinese family has been reported (last curated july 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one chinese family has been reported (last curated july 2012) | rel=r_associated | relid=0 | w=27
  4669. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:one compound heterozygous patient reported (last curated february 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:one compound heterozygous patient reported (last curated february 2015) | rel=r_associated | relid=0 | w=27
  4670. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:one consanguineous family has been reported (last curated may 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one consanguineous family has been reported (last curated may 2013) | rel=r_associated | relid=0 | w=27
  4671. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:one family from the old order amish has been reported (last curated january 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family from the old order amish has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=27
  4672. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:one family has been reported (last curated november 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (last curated november 2012) | rel=r_associated | relid=0 | w=27
  4673. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:one family has been reported (last curated september 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (last curated september 2013) | rel=r_associated | relid=0 | w=27
  4674. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:one family of italian-american descent has been described
    n1=en:incidence of 1 in 250,000 births | n2=en:one family of italian-american descent has been described | rel=r_associated | relid=0 | w=27
  4675. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:one family reported (last curated may 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family reported (last curated may 2013) | rel=r_associated | relid=0 | w=27
  4676. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:one palestinian family has been described (last curated april 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one palestinian family has been described (last curated april 2014) | rel=r_associated | relid=0 | w=27
  4677. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:one patient (patient a) and 2 sibs have been reported (last curated february 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient (patient a) and 2 sibs have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=27
  4678. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:one patient has been reported (last curated november 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient has been reported (last curated november 2014) | rel=r_associated | relid=0 | w=27
  4679. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:one patient has been reported (last curated october 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=27
  4680. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:one patient with severe congenital onset has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient with severe congenital onset has been reported | rel=r_associated | relid=0 | w=27
  4681. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset 5 to 7 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset 5 to 7 years | rel=r_associated | relid=0 | w=27
  4682. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset as neonate
    n1=en:incidence of 1 in 250,000 births | n2=en:onset as neonate | rel=r_associated | relid=0 | w=27
  4683. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset at 4 to 10 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset at 4 to 10 years | rel=r_associated | relid=0 | w=27
  4684. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset at birth or early infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:onset at birth or early infancy | rel=r_associated | relid=0 | w=27
  4685. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset before age 2 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset before age 2 years | rel=r_associated | relid=0 | w=27
  4686. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset between 10 and 20 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between 10 and 20 years of age | rel=r_associated | relid=0 | w=27
  4687. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset between 6 and 14 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between 6 and 14 years | rel=r_associated | relid=0 | w=27
  4688. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset between ages 10 and 25 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between ages 10 and 25 years | rel=r_associated | relid=0 | w=27
  4689. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset between ages 5 and 15 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between ages 5 and 15 years | rel=r_associated | relid=0 | w=27
  4690. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset birth to early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset birth to early childhood | rel=r_associated | relid=0 | w=27
  4691. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset birth to early infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:onset birth to early infancy | rel=r_associated | relid=0 | w=27
  4692. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset in adolescence to early adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in adolescence to early adulthood | rel=r_associated | relid=0 | w=27
  4693. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset in adulthood (third to fourth decade)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in adulthood (third to fourth decade) | rel=r_associated | relid=0 | w=27
  4694. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset in childhood (6-7 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood (6-7 years) | rel=r_associated | relid=0 | w=27
  4695. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset in childhood (range 1 to 9 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood (range 1 to 9 years) | rel=r_associated | relid=0 | w=27
  4696. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset in childhood or young adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood or young adulthood | rel=r_associated | relid=0 | w=27
  4697. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset in early adulthood (average 26 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in early adulthood (average 26 years) | rel=r_associated | relid=0 | w=27
  4698. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset in early childhood (age 3)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in early childhood (age 3) | rel=r_associated | relid=0 | w=27
  4699. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset in early childhood after initial normal development
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in early childhood after initial normal development | rel=r_associated | relid=0 | w=27
  4700. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset in first decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in first decade | rel=r_associated | relid=0 | w=27
  4701. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset in first or second decades
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in first or second decades | rel=r_associated | relid=0 | w=27
  4702. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset in fourth to fifth decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in fourth to fifth decade | rel=r_associated | relid=0 | w=27
  4703. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset in late childhood/adolescence (approximately 15 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in late childhood/adolescence (approximately 15 years) | rel=r_associated | relid=0 | w=27
  4704. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset in late twenties
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in late twenties | rel=r_associated | relid=0 | w=27
  4705. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset in third to fourth decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in third to fourth decade | rel=r_associated | relid=0 | w=27
  4706. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset late childhood (8 to 14 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset late childhood (8 to 14 years) | rel=r_associated | relid=0 | w=27
  4707. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset may also occur in early infancy, adolescence, or adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset may also occur in early infancy, adolescence, or adulthood | rel=r_associated | relid=0 | w=27
  4708. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset may occur in adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset may occur in adulthood | rel=r_associated | relid=0 | w=27
  4709. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset mid to late adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset mid to late adulthood | rel=r_associated | relid=0 | w=27
  4710. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset of abnormal eye movements in early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of abnormal eye movements in early childhood | rel=r_associated | relid=0 | w=27
  4711. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset of alopecia in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of alopecia in infancy | rel=r_associated | relid=0 | w=27
  4712. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset of cardiac symptoms in adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of cardiac symptoms in adolescence | rel=r_associated | relid=0 | w=27
  4713. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset of dystonia at 12 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of dystonia at 12 years | rel=r_associated | relid=0 | w=27
  4714. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset of gaze palsy at birth
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of gaze palsy at birth | rel=r_associated | relid=0 | w=27
  4715. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset of hearing loss in second decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of hearing loss in second decade | rel=r_associated | relid=0 | w=27
  4716. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset of insulin resistance may occur in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of insulin resistance may occur in childhood | rel=r_associated | relid=0 | w=27
  4717. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset of lipodystrophy later in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of lipodystrophy later in childhood | rel=r_associated | relid=0 | w=27
  4718. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset of motor disturbances in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of motor disturbances in childhood | rel=r_associated | relid=0 | w=27
  4719. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset of neurologic features is variable, even within the same family (range early childhood to adult)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of neurologic features is variable, even within the same family (range early childhood to adult) | rel=r_associated | relid=0 | w=27
  4720. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset of optic atrophy in infancy or early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of optic atrophy in infancy or early childhood | rel=r_associated | relid=0 | w=27
  4721. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset of osteoarthritis in teens to early adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of osteoarthritis in teens to early adulthood | rel=r_associated | relid=0 | w=27
  4722. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset of palmoplantar hyperkeratosis 7-8 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of palmoplantar hyperkeratosis 7-8 years of age | rel=r_associated | relid=0 | w=27
  4723. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset of proteinuria in the third to fourth decades
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of proteinuria in the third to fourth decades | rel=r_associated | relid=0 | w=27
  4724. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset of seizures in infancy or early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of seizures in infancy or early childhood | rel=r_associated | relid=0 | w=27
  4725. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset of skin manifestations from birth to puberty
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of skin manifestations from birth to puberty | rel=r_associated | relid=0 | w=27
  4726. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset of symptoms after age 5
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of symptoms after age 5 | rel=r_associated | relid=0 | w=27
  4727. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset of symptoms in second or third decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of symptoms in second or third decade | rel=r_associated | relid=0 | w=27
  4728. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset of symptoms in second or third decade (mean 25 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of symptoms in second or third decade (mean 25 years) | rel=r_associated | relid=0 | w=27
  4729. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset of tumors usually in adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of tumors usually in adulthood | rel=r_associated | relid=0 | w=27
  4730. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset soon after birth or within the first year of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset soon after birth or within the first year of life | rel=r_associated | relid=0 | w=27
  4731. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset usually at birth
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually at birth | rel=r_associated | relid=0 | w=27
  4732. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset usually in early childhood, although ranges from birth to adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in early childhood, although ranges from birth to adulthood | rel=r_associated | relid=0 | w=27
  4733. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:onset usually in young adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in young adulthood | rel=r_associated | relid=0 | w=27
  4734. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:overall course less severe compared to patients with cfh (134370) mutations
    n1=en:incidence of 1 in 250,000 births | n2=en:overall course less severe compared to patients with cfh (134370) mutations | rel=r_associated | relid=0 | w=27
  4735. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:pathogenic alleles contain greater than 41 repeats
    n1=en:incidence of 1 in 250,000 births | n2=en:pathogenic alleles contain greater than 41 repeats | rel=r_associated | relid=0 | w=27
  4736. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:patients achieve ambulation
    n1=en:incidence of 1 in 250,000 births | n2=en:patients achieve ambulation | rel=r_associated | relid=0 | w=27
  4737. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features
    n1=en:incidence of 1 in 250,000 births | n2=en:patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features | rel=r_associated | relid=0 | w=27
  4738. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:patients often become wheelchair-bound
    n1=en:incidence of 1 in 250,000 births | n2=en:patients often become wheelchair-bound | rel=r_associated | relid=0 | w=27
  4739. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:patients older than 60 years have severe degenerative arthritis in the feet
    n1=en:incidence of 1 in 250,000 births | n2=en:patients older than 60 years have severe degenerative arthritis in the feet | rel=r_associated | relid=0 | w=27
  4740. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:patients retain ambulation even after long disease course
    n1=en:incidence of 1 in 250,000 births | n2=en:patients retain ambulation even after long disease course | rel=r_associated | relid=0 | w=27
  4741. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:patients show sorbitol and glycerol intolerance
    n1=en:incidence of 1 in 250,000 births | n2=en:patients show sorbitol and glycerol intolerance | rel=r_associated | relid=0 | w=27
  4742. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:patients usually require total thyroidectomy
    n1=en:incidence of 1 in 250,000 births | n2=en:patients usually require total thyroidectomy | rel=r_associated | relid=0 | w=27
  4743. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:patients with meb may acquire ability to walk and a few words
    n1=en:incidence of 1 in 250,000 births | n2=en:patients with meb may acquire ability to walk and a few words | rel=r_associated | relid=0 | w=27
  4744. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:patients with residual enzyme activity have childhood or adult onset
    n1=en:incidence of 1 in 250,000 births | n2=en:patients with residual enzyme activity have childhood or adult onset | rel=r_associated | relid=0 | w=27
  4745. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:pcs is a distinct disorder from premature centromere division (pcd, 212790), which affects only the x chromosome
    n1=en:incidence of 1 in 250,000 births | 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=27
  4746. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:pelizaeus-merzbacher disease (pmd, 312080) is an allelic disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:pelizaeus-merzbacher disease (pmd, 312080) is an allelic disorder | rel=r_associated | relid=0 | w=27
  4747. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:penetrance of disease is complete between 30 and 40 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:penetrance of disease is complete between 30 and 40 years of age | rel=r_associated | relid=0 | w=27
  4748. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:performing laboratory phone:tele:pt:facility:nom
    n1=en:incidence of 1 in 250,000 births | n2=en:performing laboratory phone:tele:pt:facility:nom | rel=r_associated | relid=0 | w=27
  4749. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:persistent bleeding after injury or surgery
    n1=en:incidence of 1 in 250,000 births | n2=en:persistent bleeding after injury or surgery | rel=r_associated | relid=0 | w=27
  4750. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, 234200)
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, 234200) | rel=r_associated | relid=0 | w=27
  4751. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:phenotypic overlap with revesz syndrome (268130)
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic overlap with revesz syndrome (268130) | rel=r_associated | relid=0 | w=27
  4752. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, 274150)
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, 274150) | rel=r_associated | relid=0 | w=27
  4753. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:phenotypic overlap with xeroderma pigmentosum (see, e.g., 278700)
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic overlap with xeroderma pigmentosum (see, e.g., 278700) | rel=r_associated | relid=0 | w=27
  4754. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:physical features are apparent at birth
    n1=en:incidence of 1 in 250,000 births | n2=en:physical features are apparent at birth | rel=r_associated | relid=0 | w=27
  4755. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:polyps occur in teens
    n1=en:incidence of 1 in 250,000 births | n2=en:polyps occur in teens | rel=r_associated | relid=0 | w=27
  4756. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:possibly allelic to cohen syndrome (216550)
    n1=en:incidence of 1 in 250,000 births | n2=en:possibly allelic to cohen syndrome (216550) | rel=r_associated | relid=0 | w=27
  4757. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:precipitated by fever
    n1=en:incidence of 1 in 250,000 births | n2=en:precipitated by fever | rel=r_associated | relid=0 | w=27
  4758. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:predisposition to neoplasia
    n1=en:incidence of 1 in 250,000 births | n2=en:predisposition to neoplasia | rel=r_associated | relid=0 | w=27
  4759. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:predominantly occurs in young males with a high rate of atopic disease
    n1=en:incidence of 1 in 250,000 births | n2=en:predominantly occurs in young males with a high rate of atopic disease | rel=r_associated | relid=0 | w=27
  4760. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:prenatal or perinatal lethality in hemizygous males
    n1=en:incidence of 1 in 250,000 births | n2=en:prenatal or perinatal lethality in hemizygous males | rel=r_associated | relid=0 | w=27
  4761. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:presence of additional features is variable
    n1=en:incidence of 1 in 250,000 births | n2=en:presence of additional features is variable | rel=r_associated | relid=0 | w=27
  4762. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:present in infancy in all affected individuals
    n1=en:incidence of 1 in 250,000 births | n2=en:present in infancy in all affected individuals | rel=r_associated | relid=0 | w=27
  4763. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:presentation in adults - episodic or nocturnal diarrhea, flatulence, weight loss, iron deficiency anemia, macrocytic anemia, coagulopathy, vitamin d deficiency
    n1=en:incidence of 1 in 250,000 births | 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=27
  4764. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:presents at 2 to 3 months of age
    n1=en:incidence of 1 in 250,000 births | n2=en:presents at 2 to 3 months of age | rel=r_associated | relid=0 | w=27
  4765. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:prevalence approximately 1 in 4,000 males
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence approximately 1 in 4,000 males | rel=r_associated | relid=0 | w=27
  4766. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:prevalence is estimated to be 1 in 1,100,000
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence is estimated to be 1 in 1,100,000 | rel=r_associated | relid=0 | w=27
  4767. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:prevalence of 1 in 1,500
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 1 in 1,500 | rel=r_associated | relid=0 | w=27
  4768. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:primarily diagnosed in females
    n1=en:incidence of 1 in 250,000 births | n2=en:primarily diagnosed in females | rel=r_associated | relid=0 | w=27
  4769. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:progressive cerebellar ataxia
    n1=en:incidence of 1 in 250,000 births | n2=en:progressive cerebellar ataxia | rel=r_associated | relid=0 | w=27
  4770. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:progressive disorder due to secondary myopathy
    n1=en:incidence of 1 in 250,000 births | n2=en:progressive disorder due to secondary myopathy | rel=r_associated | relid=0 | w=27
  4771. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:prominent psychiatric symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:prominent psychiatric symptoms | rel=r_associated | relid=0 | w=27
  4772. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:protein s deficiency is found in 2-3% of patients with thromboembolism
    n1=en:incidence of 1 in 250,000 births | n2=en:protein s deficiency is found in 2-3% of patients with thromboembolism | rel=r_associated | relid=0 | w=27
  4773. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:pseudoarylsulfatase a deficiency is an allelic disorder with reduced levels of arsa activity, but no neurologic manifestations
    n1=en:incidence of 1 in 250,000 births | 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=27
  4774. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:psychiatric symptoms may be the presenting sign
    n1=en:incidence of 1 in 250,000 births | n2=en:psychiatric symptoms may be the presenting sign | rel=r_associated | relid=0 | w=27
  4775. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid
    n1=en:incidence of 1 in 250,000 births | n2=en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid | rel=r_associated | relid=0 | w=27
  4776. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:pyogenic arthritis, pyoderma gangrenosum and acne
    n1=en:incidence of 1 in 250,000 births | n2=en:pyogenic arthritis, pyoderma gangrenosum and acne | rel=r_associated | relid=0 | w=27
  4777. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:radioresistant dna synthesis
    n1=en:incidence of 1 in 250,000 births | n2=en:radioresistant dna synthesis | rel=r_associated | relid=0 | w=27
  4778. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:rapid disease progression
    n1=en:incidence of 1 in 250,000 births | n2=en:rapid disease progression | rel=r_associated | relid=0 | w=27
  4779. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400)
    n1=en:incidence of 1 in 250,000 births | n2=en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400) | rel=r_associated | relid=0 | w=27
  4780. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:reference lab name:identifier:time reported elsewhere:reference lab test:nominal
    n1=en:incidence of 1 in 250,000 births | n2=en:reference lab name:identifier:time reported elsewhere:reference lab test:nominal | rel=r_associated | relid=0 | w=27
  4781. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:relatives with multiple small congenital pigmented nevi
    n1=en:incidence of 1 in 250,000 births | n2=en:relatives with multiple small congenital pigmented nevi | rel=r_associated | relid=0 | w=27
  4782. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:renal anomalies are not always present
    n1=en:incidence of 1 in 250,000 births | n2=en:renal anomalies are not always present | rel=r_associated | relid=0 | w=27
  4783. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:reported in individuals of amish or mennonite descent
    n1=en:incidence of 1 in 250,000 births | n2=en:reported in individuals of amish or mennonite descent | rel=r_associated | relid=0 | w=27
  4784. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:reported in the ohio amish anabaptist community
    n1=en:incidence of 1 in 250,000 births | n2=en:reported in the ohio amish anabaptist community | rel=r_associated | relid=0 | w=27
  4785. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:residual neurologic deficits are slowly progressive
    n1=en:incidence of 1 in 250,000 births | n2=en:residual neurologic deficits are slowly progressive | rel=r_associated | relid=0 | w=27
  4786. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:responsive to high-dose biotin or biotin/thiamine treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:responsive to high-dose biotin or biotin/thiamine treatment | rel=r_associated | relid=0 | w=27
  4787. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:risk of sudden death due to cardiac arrhythmias
    n1=en:incidence of 1 in 250,000 births | n2=en:risk of sudden death due to cardiac arrhythmias | rel=r_associated | relid=0 | w=27
  4788. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:secondary hemorrhage
    n1=en:incidence of 1 in 250,000 births | n2=en:secondary hemorrhage | rel=r_associated | relid=0 | w=27
  4789. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:secondary prevention, avoid smoking, alcohol, and oxidants
    n1=en:incidence of 1 in 250,000 births | n2=en:secondary prevention, avoid smoking, alcohol, and oxidants | rel=r_associated | relid=0 | w=27
  4790. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:see also autosomal dominant hypophosphatemic rickets (193100)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also autosomal dominant hypophosphatemic rickets (193100) | rel=r_associated | relid=0 | w=27
  4791. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:see also autosomal form, 146450, and another x-linked form, 300758
    n1=en:incidence of 1 in 250,000 births | n2=en:see also autosomal form, 146450, and another x-linked form, 300758 | rel=r_associated | relid=0 | w=27
  4792. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:see also benign familial neonatal-infantile convulsions (bfnis, 607745), which shows some phenotypic similarities
    n1=en:incidence of 1 in 250,000 births | n2=en:see also benign familial neonatal-infantile convulsions (bfnis, 607745), which shows some phenotypic similarities | rel=r_associated | relid=0 | w=27
  4793. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:see also dominant deb (131750), an allelic disorder with a less severe phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:see also dominant deb (131750), an allelic disorder with a less severe phenotype | rel=r_associated | relid=0 | w=27
  4794. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:see also dominant deb (131750), an allelic disorder with a similar phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:see also dominant deb (131750), an allelic disorder with a similar phenotype | rel=r_associated | relid=0 | w=27
  4795. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:see also ecyt2 (263400) and ecyt3 (609820)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also ecyt2 (263400) and ecyt3 (609820) | rel=r_associated | relid=0 | w=27
  4796. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:see also erythrocytosis 1 (ecyt1, 133100)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also erythrocytosis 1 (ecyt1, 133100) | rel=r_associated | relid=0 | w=27
  4797. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:see also oca1b, or 'yellow albinism,' an allelic disorder with residual tyrosinase activity and some pigmentation
    n1=en:incidence of 1 in 250,000 births | n2=en:see also oca1b, or 'yellow albinism,' an allelic disorder with residual tyrosinase activity and some pigmentation | rel=r_associated | relid=0 | w=27
  4798. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:see also x-linked dominant form (300652)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also x-linked dominant form (300652) | rel=r_associated | relid=0 | w=27
  4799. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:see myotonic dystonia 1 (dm1, 160900) for a disorder with a similar phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:see myotonic dystonia 1 (dm1, 160900) for a disorder with a similar phenotype | rel=r_associated | relid=0 | w=27
  4800. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:seizures are often refractory
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures are often refractory | rel=r_associated | relid=0 | w=27
  4801. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:seizures are refractory
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures are refractory | rel=r_associated | relid=0 | w=27
  4802. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:seizures are usually intractable
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures are usually intractable | rel=r_associated | relid=0 | w=27
  4803. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:seizures are usually refractory at first
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures are usually refractory at first | rel=r_associated | relid=0 | w=27
  4804. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:seizures may be refractory
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures may be refractory | rel=r_associated | relid=0 | w=27
  4805. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:seizures may be triggered by infection
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures may be triggered by infection | rel=r_associated | relid=0 | w=27
  4806. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:seizures may occur with illness
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures may occur with illness | rel=r_associated | relid=0 | w=27
  4807. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:seizures precipitated by fatigue or alcohol
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures precipitated by fatigue or alcohol | rel=r_associated | relid=0 | w=27
  4808. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:seizures, recurrent, refractory
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures, recurrent, refractory | rel=r_associated | relid=0 | w=27
  4809. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:service comment 01:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=27
  4810. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:service comment 03:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=27
  4811. en:incidence of 1 in 250,000 births -- 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:incidence of 1 in 250,000 births | 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
  4812. en:incidence of 1 in 250,000 births -- 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:incidence of 1 in 250,000 births | 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
  4813. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:service comment 26:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=27
  4814. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:service comment 32:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=27
  4815. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:service comment 45:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=27
  4816. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:service comment 80:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=27
  4817. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:severe course
    n1=en:incidence of 1 in 250,000 births | n2=en:severe course | rel=r_associated | relid=0 | w=27
  4818. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:severe epilepsy may lead to early death
    n1=en:incidence of 1 in 250,000 births | n2=en:severe epilepsy may lead to early death | rel=r_associated | relid=0 | w=27
  4819. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:severe infections in untreated patients with neutropenia
    n1=en:incidence of 1 in 250,000 births | n2=en:severe infections in untreated patients with neutropenia | rel=r_associated | relid=0 | w=27
  4820. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:severe volume depletion
    n1=en:incidence of 1 in 250,000 births | n2=en:severe volume depletion | rel=r_associated | relid=0 | w=27
  4821. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:severe, early-onset, usually within the first days of life, with cardiomyopathy and early death
    n1=en:incidence of 1 in 250,000 births | n2=en:severe, early-onset, usually within the first days of life, with cardiomyopathy and early death | rel=r_associated | relid=0 | w=27
  4822. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:severity of phenotype may vary with x-inactivation patterns and/or mutation type
    n1=en:incidence of 1 in 250,000 births | n2=en:severity of phenotype may vary with x-inactivation patterns and/or mutation type | rel=r_associated | relid=0 | w=27
  4823. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:short is an acronym for short stature, hyperextensibility of joints/hernia, ocular depression, rieger anomaly, teething delay
    n1=en:incidence of 1 in 250,000 births | 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=27
  4824. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:short survival (less than 10 years after onset)
    n1=en:incidence of 1 in 250,000 births | n2=en:short survival (less than 10 years after onset) | rel=r_associated | relid=0 | w=27
  4825. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:simple febrile seizures usually remit by age 6 years
    n1=en:incidence of 1 in 250,000 births | n2=en:simple febrile seizures usually remit by age 6 years | rel=r_associated | relid=0 | w=27
  4826. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:single umbilical artery
    n1=en:incidence of 1 in 250,000 births | n2=en:single umbilical artery | rel=r_associated | relid=0 | w=27
  4827. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions
    n1=en:incidence of 1 in 250,000 births | n2=en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions | rel=r_associated | relid=0 | w=27
  4828. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:skin abnormalities can be present at birth or appear later in infancy or childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:skin abnormalities can be present at birth or appear later in infancy or childhood | rel=r_associated | relid=0 | w=27
  4829. en:incidence of 1 in 250,000 births -- 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:incidence of 1 in 250,000 births | 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
  4830. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:sleepwalking triggered by alcohol, sleep deprivation, stress
    n1=en:incidence of 1 in 250,000 births | n2=en:sleepwalking triggered by alcohol, sleep deprivation, stress | rel=r_associated | relid=0 | w=27
  4831. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:slight male predominance (3:2)
    n1=en:incidence of 1 in 250,000 births | n2=en:slight male predominance (3:2) | rel=r_associated | relid=0 | w=27
  4832. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:small placenta
    n1=en:incidence of 1 in 250,000 births | n2=en:small placenta | rel=r_associated | relid=0 | w=27
  4833. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:some features are variable
    n1=en:incidence of 1 in 250,000 births | n2=en:some features are variable | rel=r_associated | relid=0 | w=27
  4834. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:some features are variably present
    n1=en:incidence of 1 in 250,000 births | n2=en:some features are variably present | rel=r_associated | relid=0 | w=27
  4835. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation)
    n1=en:incidence of 1 in 250,000 births | n2=en:some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation) | rel=r_associated | relid=0 | w=27
  4836. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:some patients acquire late ambulation
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients acquire late ambulation | rel=r_associated | relid=0 | w=27
  4837. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:some patients develop ophthalmoplegia in middle age
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients develop ophthalmoplegia in middle age | rel=r_associated | relid=0 | w=27
  4838. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:some patients do not have thin corpus callosum
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients do not have thin corpus callosum | rel=r_associated | relid=0 | w=27
  4839. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+)
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+) | rel=r_associated | relid=0 | w=27
  4840. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:some patients have onset at birth or in early infancy, whereas other have onset in late childhood or adolescence
    n1=en:incidence of 1 in 250,000 births | 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=27
  4841. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:some patients may have a more protracted disorder with neurodegeneration
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may have a more protracted disorder with neurodegeneration | rel=r_associated | relid=0 | w=27
  4842. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:some patients may have residual muscle weakness
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may have residual muscle weakness | rel=r_associated | relid=0 | w=27
  4843. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:some patients may lose independent ambulation
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may lose independent ambulation | rel=r_associated | relid=0 | w=27
  4844. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:some patients may not present until adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may not present until adulthood | rel=r_associated | relid=0 | w=27
  4845. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:some patients report cyclical changes in severity of symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients report cyclical changes in severity of symptoms | rel=r_associated | relid=0 | w=27
  4846. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:some patients show rapid disease progression
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients show rapid disease progression | rel=r_associated | relid=0 | w=27
  4847. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:some phenotypic overlap with alpers syndrome (mtdps4a, 203700)
    n1=en:incidence of 1 in 250,000 births | n2=en:some phenotypic overlap with alpers syndrome (mtdps4a, 203700) | rel=r_associated | relid=0 | w=27
  4848. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:some phenotypic overlap with rett syndrome (312750)
    n1=en:incidence of 1 in 250,000 births | n2=en:some phenotypic overlap with rett syndrome (312750) | rel=r_associated | relid=0 | w=27
  4849. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:spasticity occurs before parkinsonism
    n1=en:incidence of 1 in 250,000 births | n2=en:spasticity occurs before parkinsonism | rel=r_associated | relid=0 | w=27
  4850. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain
    n1=en:incidence of 1 in 250,000 births | n2=en:spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain | rel=r_associated | relid=0 | w=27
  4851. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:spontaneous resolution by 12 months of age with no recurrence later in life
    n1=en:incidence of 1 in 250,000 births | n2=en:spontaneous resolution by 12 months of age with no recurrence later in life | rel=r_associated | relid=0 | w=27
  4852. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:spontaneous reversal of gnrh deficiency may occur in some patients
    n1=en:incidence of 1 in 250,000 births | n2=en:spontaneous reversal of gnrh deficiency may occur in some patients | rel=r_associated | relid=0 | w=27
  4853. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:sporadic occurrence is associated with advanced paternal age
    n1=en:incidence of 1 in 250,000 births | n2=en:sporadic occurrence is associated with advanced paternal age | rel=r_associated | relid=0 | w=27
  4854. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease
    n1=en:incidence of 1 in 250,000 births | n2=en:subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease | rel=r_associated | relid=0 | w=27
  4855. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:sudden death
    n1=en:incidence of 1 in 250,000 births | n2=en:sudden death | rel=r_associated | relid=0 | w=27
  4856. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:sudden infantile death may occur
    n1=en:incidence of 1 in 250,000 births | n2=en:sudden infantile death may occur | rel=r_associated | relid=0 | w=27
  4857. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:surgical intervention is not always curative
    n1=en:incidence of 1 in 250,000 births | n2=en:surgical intervention is not always curative | rel=r_associated | relid=0 | w=27
  4858. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:survival to 20 years in severe form
    n1=en:incidence of 1 in 250,000 births | n2=en:survival to 20 years in severe form | rel=r_associated | relid=0 | w=27
  4859. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:susceptibility to infections start in the first year of life
    n1=en:incidence of 1 in 250,000 births | n2=en:susceptibility to infections start in the first year of life | rel=r_associated | relid=0 | w=27
  4860. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:susceptibility to infections starts in the first week of life
    n1=en:incidence of 1 in 250,000 births | n2=en:susceptibility to infections starts in the first week of life | rel=r_associated | relid=0 | w=27
  4861. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:symptomatic if > 200 repeats
    n1=en:incidence of 1 in 250,000 births | n2=en:symptomatic if > 200 repeats | rel=r_associated | relid=0 | w=27
  4862. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:symptoms are aggravated by febrile illness
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms are aggravated by febrile illness | rel=r_associated | relid=0 | w=27
  4863. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours | rel=r_associated | relid=0 | w=27
  4864. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:symptoms usually appear in adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms usually appear in adulthood | rel=r_associated | relid=0 | w=27
  4865. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:t-cell lymphopenia is more severe early in life
    n1=en:incidence of 1 in 250,000 births | n2=en:t-cell lymphopenia is more severe early in life | rel=r_associated | relid=0 | w=27
  4866. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> 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:incidence of 1 in 250,000 births | 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=27
  4867. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:those who survive initial acute episode have no recurrence of hepatic involvement, but may have persistent hypotonia
    n1=en:incidence of 1 in 250,000 births | 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=27
  4868. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features
    n1=en:incidence of 1 in 250,000 births | n2=en:those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features | rel=r_associated | relid=0 | w=27
  4869. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:three affected sibs have been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:three affected sibs have been reported | rel=r_associated | relid=0 | w=27
  4870. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant
    n1=en:incidence of 1 in 250,000 births | n2=en:three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant | rel=r_associated | relid=0 | w=27
  4871. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:three times more common in males
    n1=en:incidence of 1 in 250,000 births | n2=en:three times more common in males | rel=r_associated | relid=0 | w=27
  4872. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:three types of pct: type i (176090) sporadic, presents in adults: types ii and iii (176100) familial, presents in childhood
    n1=en:incidence of 1 in 250,000 births | 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=27
  4873. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:three variants distinguished by age of onset - infantile ( onset before age 2), juvenile (onset in childhood), and adult
    n1=en:incidence of 1 in 250,000 births | 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=27
  4874. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:trauma, anxiety, and/or stress can precipitate or aggravate edema
    n1=en:incidence of 1 in 250,000 births | n2=en:trauma, anxiety, and/or stress can precipitate or aggravate edema | rel=r_associated | relid=0 | w=27
  4875. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:treatment with dichloroacetate (dca) prolongs survival
    n1=en:incidence of 1 in 250,000 births | n2=en:treatment with dichloroacetate (dca) prolongs survival | rel=r_associated | relid=0 | w=27
  4876. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:tumor predisposition syndrome
    n1=en:incidence of 1 in 250,000 births | n2=en:tumor predisposition syndrome | rel=r_associated | relid=0 | w=27
  4877. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1
    n1=en:incidence of 1 in 250,000 births | n2=en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1 | rel=r_associated | relid=0 | w=27
  4878. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:two chinese sisters and one chinese woman have been described (last curated april 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two chinese sisters and one chinese woman have been described (last curated april 2014) | rel=r_associated | relid=0 | w=27
  4879. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> 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:incidence of 1 in 250,000 births | 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=27
  4880. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:two families of french-canadian origin have been reported (last curated december 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two families of french-canadian origin have been reported (last curated december 2012) | rel=r_associated | relid=0 | w=27
  4881. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:two japanese brothers have been reported (as of september 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:two japanese brothers have been reported (as of september 2011) | rel=r_associated | relid=0 | w=27
  4882. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:two jordanian sibs have been reported (last curated november 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two jordanian sibs have been reported (last curated november 2014) | rel=r_associated | relid=0 | w=27
  4883. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:two main phenotypes, early-onset with neurologic defects and early-adult onset with gout
    n1=en:incidence of 1 in 250,000 births | n2=en:two main phenotypes, early-onset with neurologic defects and early-adult onset with gout | rel=r_associated | relid=0 | w=27
  4884. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:two pairs of sisters described from two canadian dariusleut hutterite families (last curated september 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:two pairs of sisters described from two canadian dariusleut hutterite families (last curated september 2013) | rel=r_associated | relid=0 | w=27
  4885. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:two pakistani families have been reported (last curated december 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two pakistani families have been reported (last curated december 2012) | rel=r_associated | relid=0 | w=27
  4886. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:two subtypes - seminoma and nonseminoma
    n1=en:incidence of 1 in 250,000 births | n2=en:two subtypes - seminoma and nonseminoma | rel=r_associated | relid=0 | w=27
  4887. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:two types - lethal neonatal and less severe, late onset
    n1=en:incidence of 1 in 250,000 births | n2=en:two types - lethal neonatal and less severe, late onset | rel=r_associated | relid=0 | w=27
  4888. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:two unrelated families and 1 isolated patient have been reported (last curated june 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated families and 1 isolated patient have been reported (last curated june 2012) | rel=r_associated | relid=0 | w=27
  4889. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:two unrelated families have been reported (as of july 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated families have been reported (as of july 2011) | rel=r_associated | relid=0 | w=27
  4890. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:two unrelated families have been reported (last curated june 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated families have been reported (last curated june 2014) | rel=r_associated | relid=0 | w=27
  4891. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:two unrelated families, one north african descent and one of italian descent, have been reported (last curated august 2014)
    n1=en:incidence of 1 in 250,000 births | 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=27
  4892. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:two unrelated patients have been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients have been reported | rel=r_associated | relid=0 | w=27
  4893. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:two unrelated patients have been reported (last curated april 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients have been reported (last curated april 2013) | rel=r_associated | relid=0 | w=27
  4894. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:two unrelated patients have been reported (last curated december 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients have been reported (last curated december 2013) | rel=r_associated | relid=0 | w=27
  4895. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> 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:incidence of 1 in 250,000 births | 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=27
  4896. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:two unrelated patients with different phenotypes have been reported (as of march 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients with different phenotypes have been reported (as of march 2012) | rel=r_associated | relid=0 | w=27
  4897. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:type 2 - hereditary opalescent dentin, not associated with bone defect (125490)
    n1=en:incidence of 1 in 250,000 births | n2=en:type 2 - hereditary opalescent dentin, not associated with bone defect (125490) | rel=r_associated | relid=0 | w=27
  4898. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:type 2 porencephaly is usually symmetrical and results from developmental malformation
    n1=en:incidence of 1 in 250,000 births | n2=en:type 2 porencephaly is usually symmetrical and results from developmental malformation | rel=r_associated | relid=0 | w=27
  4899. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:type 2b is characterized by increased affinity for platelet glycoprotein 1b
    n1=en:incidence of 1 in 250,000 births | n2=en:type 2b is characterized by increased affinity for platelet glycoprotein 1b | rel=r_associated | relid=0 | w=27
  4900. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:type a characterized by progressive myoclonic epilepsy
    n1=en:incidence of 1 in 250,000 births | n2=en:type a characterized by progressive myoclonic epilepsy | rel=r_associated | relid=0 | w=27
  4901. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia
    n1=en:incidence of 1 in 250,000 births | n2=en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia | rel=r_associated | relid=0 | w=27
  4902. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:types of psoriasis include - plaque, guttate, erythrodermic, pustular
    n1=en:incidence of 1 in 250,000 births | n2=en:types of psoriasis include - plaque, guttate, erythrodermic, pustular | rel=r_associated | relid=0 | w=27
  4903. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:typical onset in adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:typical onset in adulthood | rel=r_associated | relid=0 | w=27
  4904. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> 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:incidence of 1 in 250,000 births | 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=27
  4905. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:up to 50% of patients may have various additional congenital anomalies
    n1=en:incidence of 1 in 250,000 births | n2=en:up to 50% of patients may have various additional congenital anomalies | rel=r_associated | relid=0 | w=27
  4906. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:usually fatal in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:usually fatal in infancy | rel=r_associated | relid=0 | w=27
  4907. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:usually no increased fragility of hair
    n1=en:incidence of 1 in 250,000 births | n2=en:usually no increased fragility of hair | rel=r_associated | relid=0 | w=27
  4908. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:variable age at onset (birth to adult)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (birth to adult) | rel=r_associated | relid=0 | w=27
  4909. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:variable age at onset (late childhood to adult)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (late childhood to adult) | rel=r_associated | relid=0 | w=27
  4910. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:variable age at onset (range childhood to adult)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (range childhood to adult) | rel=r_associated | relid=0 | w=27
  4911. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:variable age at onset (range childhood to adulthood)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (range childhood to adulthood) | rel=r_associated | relid=0 | w=27
  4912. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:variable age at onset (range from early childhood to mid-adult)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (range from early childhood to mid-adult) | rel=r_associated | relid=0 | w=27
  4913. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:variable age at onset, from birth to ninth decade
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset, from birth to ninth decade | rel=r_associated | relid=0 | w=27
  4914. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:variable age at onset, range infancy to adult
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset, range infancy to adult | rel=r_associated | relid=0 | w=27
  4915. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:variable age at onset, ranging from childhood to late adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset, ranging from childhood to late adulthood | rel=r_associated | relid=0 | w=27
  4916. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:variable age of onset (first to third decades)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age of onset (first to third decades) | rel=r_associated | relid=0 | w=27
  4917. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:variable age of onset (range 1 to 30 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age of onset (range 1 to 30 years) | rel=r_associated | relid=0 | w=27
  4918. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:variable expressivity of each feature
    n1=en:incidence of 1 in 250,000 births | n2=en:variable expressivity of each feature | rel=r_associated | relid=0 | w=27
  4919. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:variable frequency (daily to monthly)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable frequency (daily to monthly) | rel=r_associated | relid=0 | w=27
  4920. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:variable infectious phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:variable infectious phenotype | rel=r_associated | relid=0 | w=27
  4921. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:variable neuroradiologic findings
    n1=en:incidence of 1 in 250,000 births | n2=en:variable neuroradiologic findings | rel=r_associated | relid=0 | w=27
  4922. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:variable severity (mild symptoms to severe handicap)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable severity (mild symptoms to severe handicap) | rel=r_associated | relid=0 | w=27
  4923. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:variable severity and progression
    n1=en:incidence of 1 in 250,000 births | n2=en:variable severity and progression | rel=r_associated | relid=0 | w=27
  4924. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:variably expressivity
    n1=en:incidence of 1 in 250,000 births | n2=en:variably expressivity | rel=r_associated | relid=0 | w=27
  4925. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior
    n1=en:incidence of 1 in 250,000 births | n2=en:variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior | rel=r_associated | relid=0 | w=27
  4926. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:vhl type 2b - renal carcinoma and pheochromocytoma
    n1=en:incidence of 1 in 250,000 births | n2=en:vhl type 2b - renal carcinoma and pheochromocytoma | rel=r_associated | relid=0 | w=27
  4927. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:wide phenotypic variability
    n1=en:incidence of 1 in 250,000 births | n2=en:wide phenotypic variability | rel=r_associated | relid=0 | w=27
  4928. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:wide phenotypic variability and severity
    n1=en:incidence of 1 in 250,000 births | n2=en:wide phenotypic variability and severity | rel=r_associated | relid=0 | w=27
  4929. en:incidence of 1 in 250,000 births -- r_associated #0: 27 / 0.628 -> en:worldwide incidence of 1 in 185,000 live births
    n1=en:incidence of 1 in 250,000 births | n2=en:worldwide incidence of 1 in 185,000 live births | rel=r_associated | relid=0 | w=27
  4930. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:(4) thiamine-responsive form
    n1=en:incidence of 1 in 250,000 births | n2=en:(4) thiamine-responsive form | rel=r_associated | relid=0 | w=26
  4931. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:1 in 17,000 in china
    n1=en:incidence of 1 in 250,000 births | n2=en:1 in 17,000 in china | rel=r_associated | relid=0 | w=26
  4932. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:1 in 50,000 in korea
    n1=en:incidence of 1 in 250,000 births | n2=en:1 in 50,000 in korea | rel=r_associated | relid=0 | w=26
  4933. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:10% due to paternal deletion
    n1=en:incidence of 1 in 250,000 births | n2=en:10% due to paternal deletion | rel=r_associated | relid=0 | w=26
  4934. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:15% cases are familial
    n1=en:incidence of 1 in 250,000 births | n2=en:15% cases are familial | rel=r_associated | relid=0 | w=26
  4935. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:2-locus model fits simultaneous autosomal recessive gene and mitochondrial gene mutation
    n1=en:incidence of 1 in 250,000 births | n2=en:2-locus model fits simultaneous autosomal recessive gene and mitochondrial gene mutation | rel=r_associated | relid=0 | w=26
  4936. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:21 patients from 17 kindreds reported (as of february 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:21 patients from 17 kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=26
  4937. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:40 patients in 16 dominant kindreds reported (as of february 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:40 patients in 16 dominant kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=26
  4938. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:a mutation in the cxorf5 gene has been reported in 1 affected family
    n1=en:incidence of 1 in 250,000 births | n2=en:a mutation in the cxorf5 gene has been reported in 1 affected family | rel=r_associated | relid=0 | w=26
  4939. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:a subset of patients have heterozygous mutations consistent with a dominant-negative effect
    n1=en:incidence of 1 in 250,000 births | n2=en:a subset of patients have heterozygous mutations consistent with a dominant-negative effect | rel=r_associated | relid=0 | w=26
  4940. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:abnormal morphogenesis of first and second branchial arches
    n1=en:incidence of 1 in 250,000 births | n2=en:abnormal morphogenesis of first and second branchial arches | rel=r_associated | relid=0 | w=26
  4941. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:about 50% of patients become wheelchair-bound at an average age of 37 years
    n1=en:incidence of 1 in 250,000 births | n2=en:about 50% of patients become wheelchair-bound at an average age of 37 years | rel=r_associated | relid=0 | w=26
  4942. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:about half of individuals are asymptomatic and identified by newborn screening programs
    n1=en:incidence of 1 in 250,000 births | n2=en:about half of individuals are asymptomatic and identified by newborn screening programs | rel=r_associated | relid=0 | w=26
  4943. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:acquired disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:acquired disorder | rel=r_associated | relid=0 | w=26
  4944. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:additional developmental abnormalities may be seen in some patients
    n1=en:incidence of 1 in 250,000 births | n2=en:additional developmental abnormalities may be seen in some patients | rel=r_associated | relid=0 | w=26
  4945. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:adolescent or adult onset associated with neuropsychiatric symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:adolescent or adult onset associated with neuropsychiatric symptoms | rel=r_associated | relid=0 | w=26
  4946. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:adult onset (before 50 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (before 50 years) | rel=r_associated | relid=0 | w=26
  4947. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:adult onset (forties)
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset (forties) | rel=r_associated | relid=0 | w=26
  4948. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:adult onset may also occur
    n1=en:incidence of 1 in 250,000 births | n2=en:adult onset may also occur | rel=r_associated | relid=0 | w=26
  4949. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:age at onset most often in childhood (first decade)
    n1=en:incidence of 1 in 250,000 births | n2=en:age at onset most often in childhood (first decade) | rel=r_associated | relid=0 | w=26
  4950. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:age at onset ranges from first to sixth decade
    n1=en:incidence of 1 in 250,000 births | n2=en:age at onset ranges from first to sixth decade | rel=r_associated | relid=0 | w=26
  4951. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:age of onset 23-59 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset 23-59 years | rel=r_associated | relid=0 | w=26
  4952. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:age of onset 5 to 19 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset 5 to 19 years | rel=r_associated | relid=0 | w=26
  4953. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:all cases due to de novo mutation (last curated february 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:all cases due to de novo mutation (last curated february 2014) | rel=r_associated | relid=0 | w=26
  4954. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:all cases occur in a jewish religious isolate originally from cochin, india
    n1=en:incidence of 1 in 250,000 births | n2=en:all cases occur in a jewish religious isolate originally from cochin, india | rel=r_associated | relid=0 | w=26
  4955. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:all known cases are caused by a finnish founder mutation in the cln8 gene (607837.0001)
    n1=en:incidence of 1 in 250,000 births | n2=en:all known cases are caused by a finnish founder mutation in the cln8 gene (607837.0001) | rel=r_associated | relid=0 | w=26
  4956. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:allelic disorder is long qt syndrome-3 (lqt3, 603830)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder is long qt syndrome-3 (lqt3, 603830) | rel=r_associated | relid=0 | w=26
  4957. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:allelic disorder to corticosterone methyloxidase type i deficiency (203400)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to corticosterone methyloxidase type i deficiency (203400) | rel=r_associated | relid=0 | w=26
  4958. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041) | rel=r_associated | relid=0 | w=26
  4959. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:allelic disorder to infantile neuroaxonal dystrophy (256600)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to infantile neuroaxonal dystrophy (256600) | rel=r_associated | relid=0 | w=26
  4960. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:allelic disorder to juvenile primary lateral sclerosis (plsj, 606353)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to juvenile primary lateral sclerosis (plsj, 606353) | rel=r_associated | relid=0 | w=26
  4961. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, 253601)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, 253601) | rel=r_associated | relid=0 | w=26
  4962. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:allelic disorder to miyoshi myopathy (254130) and distal myopathy with anterior tibial onset (606768)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to miyoshi myopathy (254130) and distal myopathy with anterior tibial onset (606768) | rel=r_associated | relid=0 | w=26
  4963. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and brooke-spiegler syndrome (bss, 605041)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and brooke-spiegler syndrome (bss, 605041) | rel=r_associated | relid=0 | w=26
  4964. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:allelic disorder to nieman-pick disease type b (607616)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to nieman-pick disease type b (607616) | rel=r_associated | relid=0 | w=26
  4965. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200) | rel=r_associated | relid=0 | w=26
  4966. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:allelic disorder to paramyotonia congenita (168300)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to paramyotonia congenita (168300) | rel=r_associated | relid=0 | w=26
  4967. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:allelic disorder to silver syndrome (270685), but distinguished by lack of spasticity
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic disorder to silver syndrome (270685), but distinguished by lack of spasticity | rel=r_associated | relid=0 | w=26
  4968. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> 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:incidence of 1 in 250,000 births | 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=26
  4969. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:allelic to ellis-van creveld syndrome (225500)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to ellis-van creveld syndrome (225500) | rel=r_associated | relid=0 | w=26
  4970. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:allelic to kid syndrome (148210), dfna3 (601544), dfnb1 (220290), vohwinkel syndrome (124500), keratoderma, palmoplantar with deafness (148350)
    n1=en:incidence of 1 in 250,000 births | 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=26
  4971. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:allelic to may-hegglin anomaly (155100), fechtner syndrome (153640), epstein syndrome (153650) and deafness, autosomal dominant 17 (603622)
    n1=en:incidence of 1 in 250,000 births | 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=26
  4972. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:allelic to mucolipidosis ii (252500)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to mucolipidosis ii (252500) | rel=r_associated | relid=0 | w=26
  4973. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:allelic to multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460)
    n1=en:incidence of 1 in 250,000 births | 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=26
  4974. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:allelic to nephronophthisis 4 (606966)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to nephronophthisis 4 (606966) | rel=r_associated | relid=0 | w=26
  4975. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750)
    n1=en:incidence of 1 in 250,000 births | 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=26
  4976. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:allelic to pachyonychia congenita jackson-lawler type (167210)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to pachyonychia congenita jackson-lawler type (167210) | rel=r_associated | relid=0 | w=26
  4977. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and tarsal-carpal coalition syndrome (186570)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and tarsal-carpal coalition syndrome (186570) | rel=r_associated | relid=0 | w=26
  4978. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:allelic with smith-mccort dysplasia (607326)
    n1=en:incidence of 1 in 250,000 births | n2=en:allelic with smith-mccort dysplasia (607326) | rel=r_associated | relid=0 | w=26
  4979. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:anemia may show favorable response to alpha-interferon treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:anemia may show favorable response to alpha-interferon treatment | rel=r_associated | relid=0 | w=26
  4980. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:approximately 25% have a severe course and die of respiratory failure
    n1=en:incidence of 1 in 250,000 births | n2=en:approximately 25% have a severe course and die of respiratory failure | rel=r_associated | relid=0 | w=26
  4981. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:approximately 50db loss in adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:approximately 50db loss in adulthood | rel=r_associated | relid=0 | w=26
  4982. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:arthralgia
    n1=en:incidence of 1 in 250,000 births | n2=en:arthralgia | rel=r_associated | relid=0 | w=26
  4983. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:associated with a balanced translocation t(12,22)(p11.2,q13.3)
    n1=en:incidence of 1 in 250,000 births | n2=en:associated with a balanced translocation t(12,22)(p11.2,q13.3) | rel=r_associated | relid=0 | w=26
  4984. en:incidence of 1 in 250,000 births -- 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:incidence of 1 in 250,000 births | 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
  4985. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:asymptomatic heterozygotes susceptible to lead toxicity
    n1=en:incidence of 1 in 250,000 births | n2=en:asymptomatic heterozygotes susceptible to lead toxicity | rel=r_associated | relid=0 | w=26
  4986. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise
    n1=en:incidence of 1 in 250,000 births | 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=26
  4987. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:autosomal recessive inheritance has been reported in 1 family
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal recessive inheritance has been reported in 1 family | rel=r_associated | relid=0 | w=26
  4988. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:autosomal recessive omodysplasia has also been described (258315)
    n1=en:incidence of 1 in 250,000 births | n2=en:autosomal recessive omodysplasia has also been described (258315) | rel=r_associated | relid=0 | w=26
  4989. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:average age of onset 13 years
    n1=en:incidence of 1 in 250,000 births | n2=en:average age of onset 13 years | rel=r_associated | relid=0 | w=26
  4990. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:average age of onset 15 years (range 4 to 40)
    n1=en:incidence of 1 in 250,000 births | n2=en:average age of onset 15 years (range 4 to 40) | rel=r_associated | relid=0 | w=26
  4991. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:average onset of seizures 6 months (range 3-12)
    n1=en:incidence of 1 in 250,000 births | n2=en:average onset of seizures 6 months (range 3-12) | rel=r_associated | relid=0 | w=26
  4992. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:basal cell neoplasms develop after second decade
    n1=en:incidence of 1 in 250,000 births | n2=en:basal cell neoplasms develop after second decade | rel=r_associated | relid=0 | w=26
  4993. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:based on 2 unrelated chinese families (last curated july 2014).
    n1=en:incidence of 1 in 250,000 births | n2=en:based on 2 unrelated chinese families (last curated july 2014). | rel=r_associated | relid=0 | w=26
  4994. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:based on description of 1 family (last curated april 2006)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on description of 1 family (last curated april 2006) | rel=r_associated | relid=0 | w=26
  4995. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:based on one finnish family
    n1=en:incidence of 1 in 250,000 births | n2=en:based on one finnish family | rel=r_associated | relid=0 | w=26
  4996. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:based on report of 1 family (last curated february 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on report of 1 family (last curated february 2015) | rel=r_associated | relid=0 | w=26
  4997. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:based on report of 5 brothers of arab-moslem descent (last curated february 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on report of 5 brothers of arab-moslem descent (last curated february 2015) | rel=r_associated | relid=0 | w=26
  4998. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:based on the report of one lebanese family (last curated october 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on the report of one lebanese family (last curated october 2014) | rel=r_associated | relid=0 | w=26
  4999. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:bethlem myopathy (158810) is an allelic disorder with a milder phenotype and autosomal dominant inheritance
    n1=en:incidence of 1 in 250,000 births | n2=en:bethlem myopathy (158810) is an allelic disorder with a milder phenotype and autosomal dominant inheritance | rel=r_associated | relid=0 | w=26
  5000. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:between 2 and 7% of children will develop afebrile seizure disorders later in life
    n1=en:incidence of 1 in 250,000 births | n2=en:between 2 and 7% of children will develop afebrile seizure disorders later in life | rel=r_associated | relid=0 | w=26
  5001. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:blisters are precipitated by minor skin trauma
    n1=en:incidence of 1 in 250,000 births | n2=en:blisters are precipitated by minor skin trauma | rel=r_associated | relid=0 | w=26
  5002. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:both heterozygous and homozygous mutations have been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:both heterozygous and homozygous mutations have been reported | rel=r_associated | relid=0 | w=26
  5003. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:can be treated with physiologic levels of 1,25-dihydroxyvitamin d3 or 1-alpha-hydroxyvitamin d3
    n1=en:incidence of 1 in 250,000 births | n2=en:can be treated with physiologic levels of 1,25-dihydroxyvitamin d3 or 1-alpha-hydroxyvitamin d3 | rel=r_associated | relid=0 | w=26
  5004. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:cardiac manifestations are often fatal
    n1=en:incidence of 1 in 250,000 births | n2=en:cardiac manifestations are often fatal | rel=r_associated | relid=0 | w=26
  5005. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:carrier females may develop intrahepatic cholestasis of pregnancy (icp, 147480)
    n1=en:incidence of 1 in 250,000 births | n2=en:carrier females may develop intrahepatic cholestasis of pregnancy (icp, 147480) | rel=r_associated | relid=0 | w=26
  5006. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:carrier females may show mild mental retardation or learning disabilities
    n1=en:incidence of 1 in 250,000 births | n2=en:carrier females may show mild mental retardation or learning disabilities | rel=r_associated | relid=0 | w=26
  5007. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec
    n1=en:incidence of 1 in 250,000 births | n2=en:carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec | rel=r_associated | relid=0 | w=26
  5008. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:caused by constitutive activation of the avpr2 receptor
    n1=en:incidence of 1 in 250,000 births | n2=en:caused by constitutive activation of the avpr2 receptor | rel=r_associated | relid=0 | w=26
  5009. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:cdags is an acronym - craniosynostosis and clavicular hypoplasia, delayed closure of fontanel, anal anomalies, genitourinary malformations, and skin eruption
    n1=en:incidence of 1 in 250,000 births | 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=26
  5010. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:cells of origin are part of the diffuse neuroendocrine system (dnes)
    n1=en:incidence of 1 in 250,000 births | n2=en:cells of origin are part of the diffuse neuroendocrine system (dnes) | rel=r_associated | relid=0 | w=26
  5011. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:characteristic facial features become more apparent with age
    n1=en:incidence of 1 in 250,000 births | n2=en:characteristic facial features become more apparent with age | rel=r_associated | relid=0 | w=26
  5012. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:childhood or adolescent onset, protracted, with myopathy and neuropathy
    n1=en:incidence of 1 in 250,000 births | n2=en:childhood or adolescent onset, protracted, with myopathy and neuropathy | rel=r_associated | relid=0 | w=26
  5013. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:chromosomal hypersensitivity to ionizing radiation and alkylating agents
    n1=en:incidence of 1 in 250,000 births | n2=en:chromosomal hypersensitivity to ionizing radiation and alkylating agents | rel=r_associated | relid=0 | w=26
  5014. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:classic hepatic form begins in first months of life with hepatic failure and death by age 5 years
    n1=en:incidence of 1 in 250,000 births | 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=26
  5015. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:classic severe form shows onset at 2 to 3 months of age
    n1=en:incidence of 1 in 250,000 births | n2=en:classic severe form shows onset at 2 to 3 months of age | rel=r_associated | relid=0 | w=26
  5016. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3' (611369)
    n1=en:incidence of 1 in 250,000 births | 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=26
  5017. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:clinically resembles spinal muscular atrophy-1 (sma1, 253300)
    n1=en:incidence of 1 in 250,000 births | n2=en:clinically resembles spinal muscular atrophy-1 (sma1, 253300) | rel=r_associated | relid=0 | w=26
  5018. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:clinically similar to torsion dystonia-1 (dyt1, 128100)
    n1=en:incidence of 1 in 250,000 births | n2=en:clinically similar to torsion dystonia-1 (dyt1, 128100) | rel=r_associated | relid=0 | w=26
  5019. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:common (up to 7% of the population)
    n1=en:incidence of 1 in 250,000 births | n2=en:common (up to 7% of the population) | rel=r_associated | relid=0 | w=26
  5020. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision
    n1=en:incidence of 1 in 250,000 births | n2=en:congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision | rel=r_associated | relid=0 | w=26
  5021. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:congenital disorders
    n1=en:incidence of 1 in 250,000 births | n2=en:congenital disorders | rel=r_associated | relid=0 | w=26
  5022. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> 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:incidence of 1 in 250,000 births | 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=26
  5023. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:contractures most severe by midadolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:contractures most severe by midadolescence | rel=r_associated | relid=0 | w=26
  5024. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:cyclic vomiting syndrome plus (cvs+) is characterized by additional neuromuscular and/or visceral organ manifestations (as indicated above)
    n1=en:incidence of 1 in 250,000 births | 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=26
  5025. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:date of analysis:tmstp:pt:xxx:qn
    n1=en:incidence of 1 in 250,000 births | n2=en:date of analysis:tmstp:pt:xxx:qn | rel=r_associated | relid=0 | w=26
  5026. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:deafness is presenting symptom
    n1=en:incidence of 1 in 250,000 births | n2=en:deafness is presenting symptom | rel=r_associated | relid=0 | w=26
  5027. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:death in early childhood has been reported in some presumed homozygotes
    n1=en:incidence of 1 in 250,000 births | n2=en:death in early childhood has been reported in some presumed homozygotes | rel=r_associated | relid=0 | w=26
  5028. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:death in early infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:death in early infancy | rel=r_associated | relid=0 | w=26
  5029. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:death in infancy due to hyperthermia or apnea
    n1=en:incidence of 1 in 250,000 births | n2=en:death in infancy due to hyperthermia or apnea | rel=r_associated | relid=0 | w=26
  5030. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:death in infancy secondary to kernicterus
    n1=en:incidence of 1 in 250,000 births | n2=en:death in infancy secondary to kernicterus | rel=r_associated | relid=0 | w=26
  5031. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:death in utero or as neonate
    n1=en:incidence of 1 in 250,000 births | n2=en:death in utero or as neonate | rel=r_associated | relid=0 | w=26
  5032. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:death may occur in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:death may occur in infancy | rel=r_associated | relid=0 | w=26
  5033. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:death occurs before 12 months of age due to cardiorespiratory arrest
    n1=en:incidence of 1 in 250,000 births | n2=en:death occurs before 12 months of age due to cardiorespiratory arrest | rel=r_associated | relid=0 | w=26
  5034. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:death often before age 2
    n1=en:incidence of 1 in 250,000 births | n2=en:death often before age 2 | rel=r_associated | relid=0 | w=26
  5035. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:death often occurs in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:death often occurs in childhood | rel=r_associated | relid=0 | w=26
  5036. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:death usually in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:death usually in infancy | rel=r_associated | relid=0 | w=26
  5037. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:death usually in the first 2 years of life
    n1=en:incidence of 1 in 250,000 births | n2=en:death usually in the first 2 years of life | rel=r_associated | relid=0 | w=26
  5038. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:death usually occurs by 12 months of life
    n1=en:incidence of 1 in 250,000 births | n2=en:death usually occurs by 12 months of life | rel=r_associated | relid=0 | w=26
  5039. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:death within 12 months
    n1=en:incidence of 1 in 250,000 births | n2=en:death within 12 months | rel=r_associated | relid=0 | w=26
  5040. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:death within first year of life in 25%
    n1=en:incidence of 1 in 250,000 births | n2=en:death within first year of life in 25% | rel=r_associated | relid=0 | w=26
  5041. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:described in families from western japan
    n1=en:incidence of 1 in 250,000 births | n2=en:described in families from western japan | rel=r_associated | relid=0 | w=26
  5042. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:diabetes and anemia respond to high doses of thiamine supplementation
    n1=en:incidence of 1 in 250,000 births | n2=en:diabetes and anemia respond to high doses of thiamine supplementation | rel=r_associated | relid=0 | w=26
  5043. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:diagnosis within the first 3 months of life
    n1=en:incidence of 1 in 250,000 births | n2=en:diagnosis within the first 3 months of life | rel=r_associated | relid=0 | w=26
  5044. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:digenic form type id/f caused by digenic mutation in the cdh23 and pcdh15 (605514) genes
    n1=en:incidence of 1 in 250,000 births | n2=en:digenic form type id/f caused by digenic mutation in the cdh23 and pcdh15 (605514) genes | rel=r_associated | relid=0 | w=26
  5045. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:disease course depends on age at onset
    n1=en:incidence of 1 in 250,000 births | n2=en:disease course depends on age at onset | rel=r_associated | relid=0 | w=26
  5046. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:dwarfism not detectable at birth
    n1=en:incidence of 1 in 250,000 births | n2=en:dwarfism not detectable at birth | rel=r_associated | relid=0 | w=26
  5047. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:dysmorphic features are mild or variable
    n1=en:incidence of 1 in 250,000 births | n2=en:dysmorphic features are mild or variable | rel=r_associated | relid=0 | w=26
  5048. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:earlier onset is associated with more aggressive disease course
    n1=en:incidence of 1 in 250,000 births | n2=en:earlier onset is associated with more aggressive disease course | rel=r_associated | relid=0 | w=26
  5049. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:early death from respiratory failure may occur
    n1=en:incidence of 1 in 250,000 births | n2=en:early death from respiratory failure may occur | rel=r_associated | relid=0 | w=26
  5050. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:early death occurs in affected infants (days to months after disease onset)
    n1=en:incidence of 1 in 250,000 births | n2=en:early death occurs in affected infants (days to months after disease onset) | rel=r_associated | relid=0 | w=26
  5051. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:early onset in some patients
    n1=en:incidence of 1 in 250,000 births | n2=en:early onset in some patients | rel=r_associated | relid=0 | w=26
  5052. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency (237300)
    n1=en:incidence of 1 in 250,000 births | n2=en:early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency (237300) | rel=r_associated | relid=0 | w=26
  5053. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:epiphyseal stippling is gone by 8 months of age
    n1=en:incidence of 1 in 250,000 births | n2=en:epiphyseal stippling is gone by 8 months of age | rel=r_associated | relid=0 | w=26
  5054. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:episodes are triggered by cold exposure
    n1=en:incidence of 1 in 250,000 births | n2=en:episodes are triggered by cold exposure | rel=r_associated | relid=0 | w=26
  5055. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:episodes are triggered by fatigue, illness, or strenuous exercise
    n1=en:incidence of 1 in 250,000 births | n2=en:episodes are triggered by fatigue, illness, or strenuous exercise | rel=r_associated | relid=0 | w=26
  5056. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:episodes last from several hours to days
    n1=en:incidence of 1 in 250,000 births | n2=en:episodes last from several hours to days | rel=r_associated | relid=0 | w=26
  5057. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat
    n1=en:incidence of 1 in 250,000 births | n2=en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat | rel=r_associated | relid=0 | w=26
  5058. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:episodes not triggered by alcohol, caffeine, or stress
    n1=en:incidence of 1 in 250,000 births | n2=en:episodes not triggered by alcohol, caffeine, or stress | rel=r_associated | relid=0 | w=26
  5059. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:episodes of fatigue or weakness (in some patients)
    n1=en:incidence of 1 in 250,000 births | n2=en:episodes of fatigue or weakness (in some patients) | rel=r_associated | relid=0 | w=26
  5060. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:erythema often triggered by sudden temperature change or emotional stress
    n1=en:incidence of 1 in 250,000 births | n2=en:erythema often triggered by sudden temperature change or emotional stress | rel=r_associated | relid=0 | w=26
  5061. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:existence as a distinct entity is not confirmed
    n1=en:incidence of 1 in 250,000 births | n2=en:existence as a distinct entity is not confirmed | rel=r_associated | relid=0 | w=26
  5062. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:extreme phenotypic variability
    n1=en:incidence of 1 in 250,000 births | n2=en:extreme phenotypic variability | rel=r_associated | relid=0 | w=26
  5063. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:favorable response to antibodies against tnf-alpha (tnfa, 191160)
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to antibodies against tnf-alpha (tnfa, 191160) | rel=r_associated | relid=0 | w=26
  5064. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:favorable response to ephedrine treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to ephedrine treatment | rel=r_associated | relid=0 | w=26
  5065. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:favorable response to spironolactone
    n1=en:incidence of 1 in 250,000 births | n2=en:favorable response to spironolactone | rel=r_associated | relid=0 | w=26
  5066. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:female carriers may develop mild hearing loss as adults
    n1=en:incidence of 1 in 250,000 births | n2=en:female carriers may develop mild hearing loss as adults | rel=r_associated | relid=0 | w=26
  5067. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:female carriers may have subtle manifestations
    n1=en:incidence of 1 in 250,000 births | n2=en:female carriers may have subtle manifestations | rel=r_associated | relid=0 | w=26
  5068. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:females are most often affected, but rare male cases have been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:females are most often affected, but rare male cases have been reported | rel=r_associated | relid=0 | w=26
  5069. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:few familial (parent offspring) cases reported
    n1=en:incidence of 1 in 250,000 births | n2=en:few familial (parent offspring) cases reported | rel=r_associated | relid=0 | w=26
  5070. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:fifty-percent of individuals responsive to pyridoxine (vitamin b6)
    n1=en:incidence of 1 in 250,000 births | n2=en:fifty-percent of individuals responsive to pyridoxine (vitamin b6) | rel=r_associated | relid=0 | w=26
  5071. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:first described in gypsy group from bulgaria
    n1=en:incidence of 1 in 250,000 births | n2=en:first described in gypsy group from bulgaria | rel=r_associated | relid=0 | w=26
  5072. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:four cases have been reported, all female
    n1=en:incidence of 1 in 250,000 births | n2=en:four cases have been reported, all female | rel=r_associated | relid=0 | w=26
  5073. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:four clinical forms of krabbe disease
    n1=en:incidence of 1 in 250,000 births | n2=en:four clinical forms of krabbe disease | rel=r_associated | relid=0 | w=26
  5074. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:four patients reported (last curated april 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:four patients reported (last curated april 2013) | rel=r_associated | relid=0 | w=26
  5075. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:four unrelated patients have been reported (last curated august 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:four unrelated patients have been reported (last curated august 2014) | rel=r_associated | relid=0 | w=26
  5076. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:four unrelated patients have been reported (last curated january 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:four unrelated patients have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=26
  5077. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:generalized dystonia in some cases
    n1=en:incidence of 1 in 250,000 births | n2=en:generalized dystonia in some cases | rel=r_associated | relid=0 | w=26
  5078. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:generally static disease course
    n1=en:incidence of 1 in 250,000 births | n2=en:generally static disease course | rel=r_associated | relid=0 | w=26
  5079. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see 159900)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see 159900) | rel=r_associated | relid=0 | w=26
  5080. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see 266900 for summary)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see 266900 for summary) | rel=r_associated | relid=0 | w=26
  5081. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see 605407)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see 605407) | rel=r_associated | relid=0 | w=26
  5082. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see edm1 132400, edm2 600204, edm3 600969, edm4 226900)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see edm1 132400, edm2 600204, edm3 600969, edm4 226900) | rel=r_associated | relid=0 | w=26
  5083. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see etl2, 608096)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see etl2, 608096) | rel=r_associated | relid=0 | w=26
  5084. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see gefs+, 604233)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see gefs+, 604233) | rel=r_associated | relid=0 | w=26
  5085. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see hcfp1, 601471)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see hcfp1, 601471) | rel=r_associated | relid=0 | w=26
  5086. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see mada, 248370)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see mada, 248370) | rel=r_associated | relid=0 | w=26
  5087. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see spondyloarthropathy, susceptibility to, 2 183840)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see spondyloarthropathy, susceptibility to, 2 183840) | rel=r_associated | relid=0 | w=26
  5088. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity, see cild1 (244400)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity, see cild1 (244400) | rel=r_associated | relid=0 | w=26
  5089. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:gonadal and somatic mosaicism reported in parent
    n1=en:incidence of 1 in 250,000 births | n2=en:gonadal and somatic mosaicism reported in parent | rel=r_associated | relid=0 | w=26
  5090. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:gonadal mosaicism reported
    n1=en:incidence of 1 in 250,000 births | n2=en:gonadal mosaicism reported | rel=r_associated | relid=0 | w=26
  5091. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:good response to gaba-enhancing medications
    n1=en:incidence of 1 in 250,000 births | n2=en:good response to gaba-enhancing medications | rel=r_associated | relid=0 | w=26
  5092. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:good response to steroid treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:good response to steroid treatment | rel=r_associated | relid=0 | w=26
  5093. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:good response to vitamin d treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:good response to vitamin d treatment | rel=r_associated | relid=0 | w=26
  5094. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:green jaundice occurs only in the context of liver failure or obstructive cholestasis
    n1=en:incidence of 1 in 250,000 births | n2=en:green jaundice occurs only in the context of liver failure or obstructive cholestasis | rel=r_associated | relid=0 | w=26
  5095. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities
    n1=en:incidence of 1 in 250,000 births | n2=en:griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities | rel=r_associated | relid=0 | w=26
  5096. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:haploinsufficiency of rps14 (130620)
    n1=en:incidence of 1 in 250,000 births | n2=en:haploinsufficiency of rps14 (130620) | rel=r_associated | relid=0 | w=26
  5097. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:headaches last hours to days
    n1=en:incidence of 1 in 250,000 births | n2=en:headaches last hours to days | rel=r_associated | relid=0 | w=26
  5098. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:hearing loss and ocular findings are variable
    n1=en:incidence of 1 in 250,000 births | n2=en:hearing loss and ocular findings are variable | rel=r_associated | relid=0 | w=26
  5099. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:heterozygous females have milder thyroid phenotype and no neurologic abnormalities
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygous females have milder thyroid phenotype and no neurologic abnormalities | rel=r_associated | relid=0 | w=26
  5100. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:heterozygous females may have gout and/or sensorineural deafness
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygous females may have gout and/or sensorineural deafness | rel=r_associated | relid=0 | w=26
  5101. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:high frequency in japan (2 in 20,000, 0.1%)
    n1=en:incidence of 1 in 250,000 births | n2=en:high frequency in japan (2 in 20,000, 0.1%) | rel=r_associated | relid=0 | w=26
  5102. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:highly variable age at onset (range 9 to 69 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:highly variable age at onset (range 9 to 69 years) | rel=r_associated | relid=0 | w=26
  5103. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes
    n1=en:incidence of 1 in 250,000 births | n2=en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes | rel=r_associated | relid=0 | w=26
  5104. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness
    n1=en:incidence of 1 in 250,000 births | n2=en:icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness | rel=r_associated | relid=0 | w=26
  5105. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:incidence 1 in 8,000 live births
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence 1 in 8,000 live births | rel=r_associated | relid=0 | w=26
  5106. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:incidence of 1 in 1,000,000
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 1,000,000 | rel=r_associated | relid=0 | w=26
  5107. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:incidence of 1 in 300,000
    n1=en:incidence of 1 in 250,000 births | n2=en:incidence of 1 in 300,000 | rel=r_associated | relid=0 | w=26
  5108. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:individuals develop ability to stand and walk
    n1=en:incidence of 1 in 250,000 births | n2=en:individuals develop ability to stand and walk | rel=r_associated | relid=0 | w=26
  5109. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:infantile form (gene deletion 'complex' with glycerol kinase deficiency and/or duchenne muscular dystrophy and/or congenital adrenal hypoplasia)
    n1=en:incidence of 1 in 250,000 births | 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=26
  5110. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:intermediate expression in females
    n1=en:incidence of 1 in 250,000 births | n2=en:intermediate expression in females | rel=r_associated | relid=0 | w=26
  5111. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:intracellular accumulation of material may not always be apparent
    n1=en:incidence of 1 in 250,000 births | n2=en:intracellular accumulation of material may not always be apparent | rel=r_associated | relid=0 | w=26
  5112. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:intrafamilial variability in severity
    n1=en:incidence of 1 in 250,000 births | n2=en:intrafamilial variability in severity | rel=r_associated | relid=0 | w=26
  5113. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:intrafamilial variation
    n1=en:incidence of 1 in 250,000 births | n2=en:intrafamilial variation | rel=r_associated | relid=0 | w=26
  5114. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:juvenile onset 4 years to puberty
    n1=en:incidence of 1 in 250,000 births | n2=en:juvenile onset 4 years to puberty | rel=r_associated | relid=0 | w=26
  5115. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity
    n1=en:incidence of 1 in 250,000 births | n2=en:juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity | rel=r_associated | relid=0 | w=26
  5116. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:lesions provoked by friction, sun exposure, heat, and injury
    n1=en:incidence of 1 in 250,000 births | n2=en:lesions provoked by friction, sun exposure, heat, and injury | rel=r_associated | relid=0 | w=26
  5117. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:less than 50% penetrance in some families
    n1=en:incidence of 1 in 250,000 births | n2=en:less than 50% penetrance in some families | rel=r_associated | relid=0 | w=26
  5118. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:lipodystrophic appearance may be mild or not present
    n1=en:incidence of 1 in 250,000 births | n2=en:lipodystrophic appearance may be mild or not present | rel=r_associated | relid=0 | w=26
  5119. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:liver functions return to normal after 3 to 4 months
    n1=en:incidence of 1 in 250,000 births | n2=en:liver functions return to normal after 3 to 4 months | rel=r_associated | relid=0 | w=26
  5120. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:lower limbs more severely affected
    n1=en:incidence of 1 in 250,000 births | n2=en:lower limbs more severely affected | rel=r_associated | relid=0 | w=26
  5121. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:major cause of death is heart failure
    n1=en:incidence of 1 in 250,000 births | n2=en:major cause of death is heart failure | rel=r_associated | relid=0 | w=26
  5122. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:majority are isolated cases
    n1=en:incidence of 1 in 250,000 births | n2=en:majority are isolated cases | rel=r_associated | relid=0 | w=26
  5123. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:majority of cases sporadic
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of cases sporadic | rel=r_associated | relid=0 | w=26
  5124. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:majority of children die between 6 months and 5 yrs
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of children die between 6 months and 5 yrs | rel=r_associated | relid=0 | w=26
  5125. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:majority of patients are stillborn or die before 5 months of age
    n1=en:incidence of 1 in 250,000 births | n2=en:majority of patients are stillborn or die before 5 months of age | rel=r_associated | relid=0 | w=26
  5126. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:male infertility
    n1=en:incidence of 1 in 250,000 births | n2=en:male infertility | rel=r_associated | relid=0 | w=26
  5127. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:male-limited trait
    n1=en:incidence of 1 in 250,000 births | n2=en:male-limited trait | rel=r_associated | relid=0 | w=26
  5128. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:male-to-female ratio of 3:2 in childhood cases
    n1=en:incidence of 1 in 250,000 births | n2=en:male-to-female ratio of 3:2 in childhood cases | rel=r_associated | relid=0 | w=26
  5129. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:malnutrition can be severe, requiring total parenteral nutrition
    n1=en:incidence of 1 in 250,000 births | n2=en:malnutrition can be severe, requiring total parenteral nutrition | rel=r_associated | relid=0 | w=26
  5130. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:manifestations of cushing syndrome may be mild
    n1=en:incidence of 1 in 250,000 births | n2=en:manifestations of cushing syndrome may be mild | rel=r_associated | relid=0 | w=26
  5131. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:many cases are sporadic, but somatic and germline mosaicism has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:many cases are sporadic, but somatic and germline mosaicism has been reported | rel=r_associated | relid=0 | w=26
  5132. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:many patients require cardiac pacemakers
    n1=en:incidence of 1 in 250,000 births | n2=en:many patients require cardiac pacemakers | rel=r_associated | relid=0 | w=26
  5133. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:marked phenotypic variability
    n1=en:incidence of 1 in 250,000 births | n2=en:marked phenotypic variability | rel=r_associated | relid=0 | w=26
  5134. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:maternal uniparental disomy (upd)7 reported in some cases
    n1=en:incidence of 1 in 250,000 births | n2=en:maternal uniparental disomy (upd)7 reported in some cases | rel=r_associated | relid=0 | w=26
  5135. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:may be exacerbated by febrile illness
    n1=en:incidence of 1 in 250,000 births | n2=en:may be exacerbated by febrile illness | rel=r_associated | relid=0 | w=26
  5136. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:may be induced by fever or hot bath
    n1=en:incidence of 1 in 250,000 births | n2=en:may be induced by fever or hot bath | rel=r_associated | relid=0 | w=26
  5137. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:may progress to other body regions after many years
    n1=en:incidence of 1 in 250,000 births | n2=en:may progress to other body regions after many years | rel=r_associated | relid=0 | w=26
  5138. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:may result in early death from severe diarrhea
    n1=en:incidence of 1 in 250,000 births | n2=en:may result in early death from severe diarrhea | rel=r_associated | relid=0 | w=26
  5139. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:mean age at diagnosis 8.8 years (range 0.2-23 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at diagnosis 8.8 years (range 0.2-23 years) | rel=r_associated | relid=0 | w=26
  5140. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:mean age at onset 30.7 years (range 6 to 60 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset 30.7 years (range 6 to 60 years) | rel=r_associated | relid=0 | w=26
  5141. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:mean age at onset for variant cjd is 29 years (before age 45 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset for variant cjd is 29 years (before age 45 years) | rel=r_associated | relid=0 | w=26
  5142. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:mean age at onset of cerebellar ataxia is 52.8 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age at onset of cerebellar ataxia is 52.8 years | rel=r_associated | relid=0 | w=26
  5143. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:mean age of diagnosis of renal cell carcinoma is 46 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age of diagnosis of renal cell carcinoma is 46 years | rel=r_associated | relid=0 | w=26
  5144. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:mean age of onset 34 months
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age of onset 34 months | rel=r_associated | relid=0 | w=26
  5145. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:mean age of onset 50 to 52 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean age of onset 50 to 52 years | rel=r_associated | relid=0 | w=26
  5146. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:mean duration of symptoms 4.2 plus or minus 2.4 years
    n1=en:incidence of 1 in 250,000 births | n2=en:mean duration of symptoms 4.2 plus or minus 2.4 years | rel=r_associated | relid=0 | w=26
  5147. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:median age at diagnosis 7 years
    n1=en:incidence of 1 in 250,000 births | n2=en:median age at diagnosis 7 years | rel=r_associated | relid=0 | w=26
  5148. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:median age of onset of pigmentation - 8 years (range 1-15 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:median age of onset of pigmentation - 8 years (range 1-15 years) | rel=r_associated | relid=0 | w=26
  5149. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:medical director review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative
    n1=en:incidence of 1 in 250,000 births | 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=26
  5150. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:metabolic decompensation, episodic
    n1=en:incidence of 1 in 250,000 births | n2=en:metabolic decompensation, episodic | rel=r_associated | relid=0 | w=26
  5151. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:metabolic rate^resting:engrto:pt:^patient:qn
    n1=en:incidence of 1 in 250,000 births | n2=en:metabolic rate^resting:engrto:pt:^patient:qn | rel=r_associated | relid=0 | w=26
  5152. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:mode of inheritance is unclear
    n1=en:incidence of 1 in 250,000 births | n2=en:mode of inheritance is unclear | rel=r_associated | relid=0 | w=26
  5153. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:moderate age-related improvement of pancreatic function
    n1=en:incidence of 1 in 250,000 births | n2=en:moderate age-related improvement of pancreatic function | rel=r_associated | relid=0 | w=26
  5154. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities
    n1=en:incidence of 1 in 250,000 births | n2=en:momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities | rel=r_associated | relid=0 | w=26
  5155. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:more severe in males than in females
    n1=en:incidence of 1 in 250,000 births | n2=en:more severe in males than in females | rel=r_associated | relid=0 | w=26
  5156. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:most affected infants die in the first month of life
    n1=en:incidence of 1 in 250,000 births | n2=en:most affected infants die in the first month of life | rel=r_associated | relid=0 | w=26
  5157. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:most cases do not have mutations in the mapt gene, but map to chromosome 17q
    n1=en:incidence of 1 in 250,000 births | n2=en:most cases do not have mutations in the mapt gene, but map to chromosome 17q | rel=r_associated | relid=0 | w=26
  5158. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:most cases due to de novo mutation
    n1=en:incidence of 1 in 250,000 births | n2=en:most cases due to de novo mutation | rel=r_associated | relid=0 | w=26
  5159. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:most cases sporadic
    n1=en:incidence of 1 in 250,000 births | n2=en:most cases sporadic | rel=r_associated | relid=0 | w=26
  5160. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:most children become wheelchair-bound
    n1=en:incidence of 1 in 250,000 births | n2=en:most children become wheelchair-bound | rel=r_associated | relid=0 | w=26
  5161. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:most common disorder of fatty acid oxidation (1/13,000 births)
    n1=en:incidence of 1 in 250,000 births | n2=en:most common disorder of fatty acid oxidation (1/13,000 births) | rel=r_associated | relid=0 | w=26
  5162. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:most common terminal deletion syndrome
    n1=en:incidence of 1 in 250,000 births | n2=en:most common terminal deletion syndrome | rel=r_associated | relid=0 | w=26
  5163. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:most have resolution of symptoms between 6 and 12 months
    n1=en:incidence of 1 in 250,000 births | n2=en:most have resolution of symptoms between 6 and 12 months | rel=r_associated | relid=0 | w=26
  5164. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:most patients are clinically asymptomatic
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients are clinically asymptomatic | rel=r_associated | relid=0 | w=26
  5165. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:most patients are from finland
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients are from finland | rel=r_associated | relid=0 | w=26
  5166. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:most patients become wheelchair-bound
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients become wheelchair-bound | rel=r_associated | relid=0 | w=26
  5167. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:most patients become wheelchair-bound in the second to fourth decades
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients become wheelchair-bound in the second to fourth decades | rel=r_associated | relid=0 | w=26
  5168. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> 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:incidence of 1 in 250,000 births | 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=26
  5169. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:most patients have a family history of fragile x syndrome
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients have a family history of fragile x syndrome | rel=r_associated | relid=0 | w=26
  5170. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:most patients have involvement of all nails, with more severe changes in the nails of the thumbs and great toes
    n1=en:incidence of 1 in 250,000 births | 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=26
  5171. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:most patients need assistance walking or are wheelchair-bound
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients need assistance walking or are wheelchair-bound | rel=r_associated | relid=0 | w=26
  5172. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:most pregnancies with affected fetuses resulted in elective termination molecular genetics : caused by mutation in the homolog of the drosophila crumbs 2 gene (crb2, 609720.0006)
    n1=en:incidence of 1 in 250,000 births | n2=en:most pregnancies with affected fetuses resulted in elective termination molecular genetics : caused by mutation in the homolog of the drosophila crumbs 2 gene (crb2, 609720.0006) | rel=r_associated | relid=0 | w=26
  5173. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:most types show autosomal dominant inheritance
    n1=en:incidence of 1 in 250,000 births | n2=en:most types show autosomal dominant inheritance | rel=r_associated | relid=0 | w=26
  5174. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:movements worsened by anxiety
    n1=en:incidence of 1 in 250,000 births | n2=en:movements worsened by anxiety | rel=r_associated | relid=0 | w=26
  5175. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:mps1 types are distinguished clinically by age of onset and progression or by mutation(s)
    n1=en:incidence of 1 in 250,000 births | n2=en:mps1 types are distinguished clinically by age of onset and progression or by mutation(s) | rel=r_associated | relid=0 | w=26
  5176. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:mutation carriers may show toxicity to 5-fluorouracil (5fu)
    n1=en:incidence of 1 in 250,000 births | n2=en:mutation carriers may show toxicity to 5-fluorouracil (5fu) | rel=r_associated | relid=0 | w=26
  5177. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:mutations in the cpo gene cause 3 clinically distinct disorders, hereditary coproporphyria (hcp), 'homozygous' variant hereditary coproporphyria, or harderoporphyria
    n1=en:incidence of 1 in 250,000 births | 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=26
  5178. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:narcolepsy and deafness are the first symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:narcolepsy and deafness are the first symptoms | rel=r_associated | relid=0 | w=26
  5179. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:neonatal and late-infantile onset
    n1=en:incidence of 1 in 250,000 births | n2=en:neonatal and late-infantile onset | rel=r_associated | relid=0 | w=26
  5180. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:neurologic involvement may occur in the absence of visceral involvement
    n1=en:incidence of 1 in 250,000 births | n2=en:neurologic involvement may occur in the absence of visceral involvement | rel=r_associated | relid=0 | w=26
  5181. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:no family history, de novo mutations
    n1=en:incidence of 1 in 250,000 births | n2=en:no family history, de novo mutations | rel=r_associated | relid=0 | w=26
  5182. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:no preceding skin inflammatory stage
    n1=en:incidence of 1 in 250,000 births | n2=en:no preceding skin inflammatory stage | rel=r_associated | relid=0 | w=26
  5183. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:no response to phenobarbital
    n1=en:incidence of 1 in 250,000 births | n2=en:no response to phenobarbital | rel=r_associated | relid=0 | w=26
  5184. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:non-progressive and more severe progressive forms
    n1=en:incidence of 1 in 250,000 births | n2=en:non-progressive and more severe progressive forms | rel=r_associated | relid=0 | w=26
  5185. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:normal sialophorin gene
    n1=en:incidence of 1 in 250,000 births | n2=en:normal sialophorin gene | rel=r_associated | relid=0 | w=26
  5186. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:not responsive to biotin treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:not responsive to biotin treatment | rel=r_associated | relid=0 | w=26
  5187. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:number of episodes varies from 1 to many (up to 20)
    n1=en:incidence of 1 in 250,000 births | n2=en:number of episodes varies from 1 to many (up to 20) | rel=r_associated | relid=0 | w=26
  5188. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:nutritional risk index:arbitrary concentration:point in time:^patient:quantitative
    n1=en:incidence of 1 in 250,000 births | n2=en:nutritional risk index:arbitrary concentration:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=26
  5189. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:occasionally low-dose insulin required
    n1=en:incidence of 1 in 250,000 births | n2=en:occasionally low-dose insulin required | rel=r_associated | relid=0 | w=26
  5190. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:occurs during pregnancy, most often in the third trimester
    n1=en:incidence of 1 in 250,000 births | n2=en:occurs during pregnancy, most often in the third trimester | rel=r_associated | relid=0 | w=26
  5191. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:occurs in full-term newborns
    n1=en:incidence of 1 in 250,000 births | n2=en:occurs in full-term newborns | rel=r_associated | relid=0 | w=26
  5192. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:occurs on right side in 75% of cases
    n1=en:incidence of 1 in 250,000 births | n2=en:occurs on right side in 75% of cases | rel=r_associated | relid=0 | w=26
  5193. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:odor of 'sweaty feet'
    n1=en:incidence of 1 in 250,000 births | n2=en:odor of 'sweaty feet' | rel=r_associated | relid=0 | w=26
  5194. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:often associated with syringomyelia (186700)
    n1=en:incidence of 1 in 250,000 births | n2=en:often associated with syringomyelia (186700) | rel=r_associated | relid=0 | w=26
  5195. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:often diagnosed between ages 3-4 months
    n1=en:incidence of 1 in 250,000 births | n2=en:often diagnosed between ages 3-4 months | rel=r_associated | relid=0 | w=26
  5196. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one 4-generation chinese family has been reported (as of 04/2010)
    n1=en:incidence of 1 in 250,000 births | n2=en:one 4-generation chinese family has been reported (as of 04/2010) | rel=r_associated | relid=0 | w=26
  5197. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one 5-generation chinese family reported (last curated november 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one 5-generation chinese family reported (last curated november 2014) | rel=r_associated | relid=0 | w=26
  5198. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one 9-generation family and 1 isolated patient described (last curated march 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one 9-generation family and 1 isolated patient described (last curated march 2014) | rel=r_associated | relid=0 | w=26
  5199. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one brother and sister of micmac indian and french-canadian ancestry have been reported (last curated september 2014)
    n1=en:incidence of 1 in 250,000 births | 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=26
  5200. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one chinese family and 1 unrelated patient have been reported (last curated april 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one chinese family and 1 unrelated patient have been reported (last curated april 2013) | rel=r_associated | relid=0 | w=26
  5201. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one consanguineous pakistani family has been reported (last curated october 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one consanguineous pakistani family has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=26
  5202. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one family and an unrelated patient have been reported (last curated july 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family and an unrelated patient have been reported (last curated july 2014) | rel=r_associated | relid=0 | w=26
  5203. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one family has been reported (last curated december 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (last curated december 2012) | rel=r_associated | relid=0 | w=26
  5204. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one family has been reported (last curated february 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (last curated february 2014) | rel=r_associated | relid=0 | w=26
  5205. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one family has been reported (last curated july 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (last curated july 2014) | rel=r_associated | relid=0 | w=26
  5206. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one family has been reported (last curated june 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family has been reported (last curated june 2013) | rel=r_associated | relid=0 | w=26
  5207. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one family reported (as of may 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family reported (as of may 2012) | rel=r_associated | relid=0 | w=26
  5208. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one family reported (last curated january 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family reported (last curated january 2014) | rel=r_associated | relid=0 | w=26
  5209. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one family with 3 affected girls has been reported (as of october 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family with 3 affected girls has been reported (as of october 2011) | rel=r_associated | relid=0 | w=26
  5210. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one family with 6 probands described (as of september 2000)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family with 6 probands described (as of september 2000) | rel=r_associated | relid=0 | w=26
  5211. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one family with a confirmed pathogenic atp2b3 mutation has been reported (last curated december 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family with a confirmed pathogenic atp2b3 mutation has been reported (last curated december 2012) | rel=r_associated | relid=0 | w=26
  5212. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one indian family has been reported (as of october 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:one indian family has been reported (as of october 2011) | rel=r_associated | relid=0 | w=26
  5213. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one japanese family has been reported (last curated december 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one japanese family has been reported (last curated december 2014) | rel=r_associated | relid=0 | w=26
  5214. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one large swedish family has been reported (as of april 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one large swedish family has been reported (as of april 2012) | rel=r_associated | relid=0 | w=26
  5215. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one of the most common autoimmune diseases
    n1=en:incidence of 1 in 250,000 births | n2=en:one of the most common autoimmune diseases | rel=r_associated | relid=0 | w=26
  5216. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one patient died at 17 months of age
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient died at 17 months of age | rel=r_associated | relid=0 | w=26
  5217. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one patient has been reported (as of december 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient has been reported (as of december 2011) | rel=r_associated | relid=0 | w=26
  5218. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one patient has been reported (last curated april 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient has been reported (last curated april 2014) | rel=r_associated | relid=0 | w=26
  5219. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one patient has been reported (last curated december 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient has been reported (last curated december 2014) | rel=r_associated | relid=0 | w=26
  5220. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one patient reported with col3a1 mutation (120180.0020)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient reported with col3a1 mutation (120180.0020) | rel=r_associated | relid=0 | w=26
  5221. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one patient showed improvement and was thriving at 46 months of age
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient showed improvement and was thriving at 46 months of age | rel=r_associated | relid=0 | w=26
  5222. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one patient with limited clinical information has been reported (last curated october 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient with limited clinical information has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=26
  5223. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one third of patients represent new mutations
    n1=en:incidence of 1 in 250,000 births | n2=en:one third of patients represent new mutations | rel=r_associated | relid=0 | w=26
  5224. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:one-third of cases are sporadic
    n1=en:incidence of 1 in 250,000 births | n2=en:one-third of cases are sporadic | rel=r_associated | relid=0 | w=26
  5225. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset - present at birth
    n1=en:incidence of 1 in 250,000 births | n2=en:onset - present at birth | rel=r_associated | relid=0 | w=26
  5226. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset 50 to 65 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset 50 to 65 years | rel=r_associated | relid=0 | w=26
  5227. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset 8-20 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset 8-20 years | rel=r_associated | relid=0 | w=26
  5228. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset at 2 to 15 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset at 2 to 15 years | rel=r_associated | relid=0 | w=26
  5229. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset at 5-24 months
    n1=en:incidence of 1 in 250,000 births | n2=en:onset at 5-24 months | rel=r_associated | relid=0 | w=26
  5230. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset at age 3-5 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset at age 3-5 years | rel=r_associated | relid=0 | w=26
  5231. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset at age 5 to 15 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset at age 5 to 15 years | rel=r_associated | relid=0 | w=26
  5232. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset before age 20
    n1=en:incidence of 1 in 250,000 births | n2=en:onset before age 20 | rel=r_associated | relid=0 | w=26
  5233. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset between 5 and 20 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between 5 and 20 years | rel=r_associated | relid=0 | w=26
  5234. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset between birth and 3 months of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between birth and 3 months of age | rel=r_associated | relid=0 | w=26
  5235. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset between the second and sixth decades
    n1=en:incidence of 1 in 250,000 births | n2=en:onset between the second and sixth decades | rel=r_associated | relid=0 | w=26
  5236. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset in adolescence or young adulthood has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in adolescence or young adulthood has been reported | rel=r_associated | relid=0 | w=26
  5237. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset in childhood (5 to 10 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood (5 to 10 years) | rel=r_associated | relid=0 | w=26
  5238. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset in childhood (range 2 to 16 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood (range 2 to 16 years) | rel=r_associated | relid=0 | w=26
  5239. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset in childhood (usually before age 5 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood (usually before age 5 years) | rel=r_associated | relid=0 | w=26
  5240. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset in childhood or adolescence (mean age of 6 years, range 1 to 18)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood or adolescence (mean age of 6 years, range 1 to 18) | rel=r_associated | relid=0 | w=26
  5241. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset in childhood or adolescence (range 6 to 15 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood or adolescence (range 6 to 15 years) | rel=r_associated | relid=0 | w=26
  5242. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset in childhood or second decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in childhood or second decade | rel=r_associated | relid=0 | w=26
  5243. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset in early childhood (infancy to 6 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in early childhood (infancy to 6 years) | rel=r_associated | relid=0 | w=26
  5244. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset in early first decade, although some patients have onset at birth or early in infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in early first decade, although some patients have onset at birth or early in infancy | rel=r_associated | relid=0 | w=26
  5245. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset in first months of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in first months of life | rel=r_associated | relid=0 | w=26
  5246. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset in infancy (first year of life)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in infancy (first year of life) | rel=r_associated | relid=0 | w=26
  5247. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset in infancy or at birth
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in infancy or at birth | rel=r_associated | relid=0 | w=26
  5248. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset in infancy was reported in 1 family
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in infancy was reported in 1 family | rel=r_associated | relid=0 | w=26
  5249. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset in late infancy
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in late infancy | rel=r_associated | relid=0 | w=26
  5250. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset in second to fifth decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in second to fifth decade | rel=r_associated | relid=0 | w=26
  5251. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset in second to fourth decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in second to fourth decade | rel=r_associated | relid=0 | w=26
  5252. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset in the second or third decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in the second or third decade of life | rel=r_associated | relid=0 | w=26
  5253. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset in young adulthood or adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in young adulthood or adulthood | rel=r_associated | relid=0 | w=26
  5254. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset of ataxia in the fifties
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of ataxia in the fifties | rel=r_associated | relid=0 | w=26
  5255. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement | rel=r_associated | relid=0 | w=26
  5256. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset of choreoathetosis in childhood or young adult (6-23 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of choreoathetosis in childhood or young adult (6-23 years) | rel=r_associated | relid=0 | w=26
  5257. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset of deafness and diabetes in adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of deafness and diabetes in adulthood | rel=r_associated | relid=0 | w=26
  5258. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset of disease between 25 and 40 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of disease between 25 and 40 years of age | rel=r_associated | relid=0 | w=26
  5259. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset of disease in fourth or fifth decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of disease in fourth or fifth decade of life | rel=r_associated | relid=0 | w=26
  5260. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset of disease in late childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of disease in late childhood | rel=r_associated | relid=0 | w=26
  5261. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset of hand involvement at 14 to 60 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of hand involvement at 14 to 60 years | rel=r_associated | relid=0 | w=26
  5262. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset of illness often associated with acute infection
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of illness often associated with acute infection | rel=r_associated | relid=0 | w=26
  5263. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset of joint pain in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of joint pain in childhood | rel=r_associated | relid=0 | w=26
  5264. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset of neurologic events can occur between 4 and 35 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of neurologic events can occur between 4 and 35 years of age | rel=r_associated | relid=0 | w=26
  5265. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset of renal failure in adulthood (range twenties to fifties)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of renal failure in adulthood (range twenties to fifties) | rel=r_associated | relid=0 | w=26
  5266. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset of seizures around 7 to 12 years
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of seizures around 7 to 12 years | rel=r_associated | relid=0 | w=26
  5267. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset of seizures in first 6 months of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of seizures in first 6 months of life | rel=r_associated | relid=0 | w=26
  5268. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset of spastic paraplegia in first year of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of spastic paraplegia in first year of life | rel=r_associated | relid=0 | w=26
  5269. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset of symptoms at 2-4 months
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of symptoms at 2-4 months | rel=r_associated | relid=0 | w=26
  5270. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset of symptoms in childhood with stiff, painful joints
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of symptoms in childhood with stiff, painful joints | rel=r_associated | relid=0 | w=26
  5271. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset of symptoms in early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of symptoms in early childhood | rel=r_associated | relid=0 | w=26
  5272. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset of symptoms less than one year
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of symptoms less than one year | rel=r_associated | relid=0 | w=26
  5273. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset of symptoms within the first 2 decades of life
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of symptoms within the first 2 decades of life | rel=r_associated | relid=0 | w=26
  5274. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset of visual loss in the first decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of visual loss in the first decade | rel=r_associated | relid=0 | w=26
  5275. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset ranges from first to third decade
    n1=en:incidence of 1 in 250,000 births | n2=en:onset ranges from first to third decade | rel=r_associated | relid=0 | w=26
  5276. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset ranges from young adulthood to sixties
    n1=en:incidence of 1 in 250,000 births | n2=en:onset ranges from young adulthood to sixties | rel=r_associated | relid=0 | w=26
  5277. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset usually after age 40
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually after age 40 | rel=r_associated | relid=0 | w=26
  5278. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset usually before age 40 years (range 15 to 55)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually before age 40 years (range 15 to 55) | rel=r_associated | relid=0 | w=26
  5279. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset usually in childhood (infancy to teens)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in childhood (infancy to teens) | rel=r_associated | relid=0 | w=26
  5280. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:onset usually in infancy or childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset usually in infancy or childhood | rel=r_associated | relid=0 | w=26
  5281. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:overlap with tourette syndrome (137580)
    n1=en:incidence of 1 in 250,000 births | n2=en:overlap with tourette syndrome (137580) | rel=r_associated | relid=0 | w=26
  5282. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:overlapping features of digeorge syndrome
    n1=en:incidence of 1 in 250,000 births | n2=en:overlapping features of digeorge syndrome | rel=r_associated | relid=0 | w=26
  5283. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:overlapping features with barber-say syndrome (209885)
    n1=en:incidence of 1 in 250,000 births | n2=en:overlapping features with barber-say syndrome (209885) | rel=r_associated | relid=0 | w=26
  5284. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:part of 'dent disease complex'
    n1=en:incidence of 1 in 250,000 births | n2=en:part of 'dent disease complex' | rel=r_associated | relid=0 | w=26
  5285. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:paternal age effect
    n1=en:incidence of 1 in 250,000 births | n2=en:paternal age effect | rel=r_associated | relid=0 | w=26
  5286. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:patients do not exhibit ophthalmoplegia
    n1=en:incidence of 1 in 250,000 births | n2=en:patients do not exhibit ophthalmoplegia | rel=r_associated | relid=0 | w=26
  5287. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:patients have normal pituitary function
    n1=en:incidence of 1 in 250,000 births | n2=en:patients have normal pituitary function | rel=r_associated | relid=0 | w=26
  5288. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:patients may become wheelchair-bound as adults
    n1=en:incidence of 1 in 250,000 births | n2=en:patients may become wheelchair-bound as adults | rel=r_associated | relid=0 | w=26
  5289. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:patients may present with recurrent illnesses or infections, or shock
    n1=en:incidence of 1 in 250,000 births | n2=en:patients may present with recurrent illnesses or infections, or shock | rel=r_associated | relid=0 | w=26
  5290. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:patients of brazilian origin have a pure cerebellar atrophy
    n1=en:incidence of 1 in 250,000 births | n2=en:patients of brazilian origin have a pure cerebellar atrophy | rel=r_associated | relid=0 | w=26
  5291. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:patients often have a more severe and complicated phenotype in addition to peo
    n1=en:incidence of 1 in 250,000 births | n2=en:patients often have a more severe and complicated phenotype in addition to peo | rel=r_associated | relid=0 | w=26
  5292. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:patients often require implantation of a pacemaker
    n1=en:incidence of 1 in 250,000 births | n2=en:patients often require implantation of a pacemaker | rel=r_associated | relid=0 | w=26
  5293. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:patients with hemophilia b(m) variants (see, e.g., 300746.0030) also have prolonged pt
    n1=en:incidence of 1 in 250,000 births | n2=en:patients with hemophilia b(m) variants (see, e.g., 300746.0030) also have prolonged pt | rel=r_associated | relid=0 | w=26
  5294. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:patients with meb have less severe features and longer survival
    n1=en:incidence of 1 in 250,000 births | n2=en:patients with meb have less severe features and longer survival | rel=r_associated | relid=0 | w=26
  5295. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:patients with t2 deficiency and urinary abnormalities may be asymptomatic
    n1=en:incidence of 1 in 250,000 births | n2=en:patients with t2 deficiency and urinary abnormalities may be asymptomatic | rel=r_associated | relid=0 | w=26
  5296. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2
    n1=en:incidence of 1 in 250,000 births | n2=en:pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2 | rel=r_associated | relid=0 | w=26
  5297. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:pedigrees consistent with autosomal dominant and autosomal recessive inheritance have been described
    n1=en:incidence of 1 in 250,000 births | n2=en:pedigrees consistent with autosomal dominant and autosomal recessive inheritance have been described | rel=r_associated | relid=0 | w=26
  5298. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:performing laboratory medical director:id:pt:facility:nom
    n1=en:incidence of 1 in 250,000 births | n2=en:performing laboratory medical director:id:pt:facility:nom | rel=r_associated | relid=0 | w=26
  5299. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:performing laboratory name:identifier:point in time:facility:nominal
    n1=en:incidence of 1 in 250,000 births | n2=en:performing laboratory name:identifier:point in time:facility:nominal | rel=r_associated | relid=0 | w=26
  5300. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:phenotype may be oligogenic in some patients who carry mutations in more than one hh-associated gene
    n1=en:incidence of 1 in 250,000 births | 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=26
  5301. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, 162400)
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, 162400) | rel=r_associated | relid=0 | w=26
  5302. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:phenotypic similarities to noonan syndrome (163950)
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotypic similarities to noonan syndrome (163950) | rel=r_associated | relid=0 | w=26
  5303. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:polyhydramnios
    n1=en:incidence of 1 in 250,000 births | n2=en:polyhydramnios | rel=r_associated | relid=0 | w=26
  5304. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:poor response to acetylcholinesterase inhibitors or cholinergic agents
    n1=en:incidence of 1 in 250,000 births | n2=en:poor response to acetylcholinesterase inhibitors or cholinergic agents | rel=r_associated | relid=0 | w=26
  5305. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:positive family history in 12-33% patients
    n1=en:incidence of 1 in 250,000 births | n2=en:positive family history in 12-33% patients | rel=r_associated | relid=0 | w=26
  5306. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:possible defect of a specific lipase in the pathway of free fatty acid oxidation
    n1=en:incidence of 1 in 250,000 births | n2=en:possible defect of a specific lipase in the pathway of free fatty acid oxidation | rel=r_associated | relid=0 | w=26
  5307. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:presence of 4 major features or 3 major and 2 minor features establishes the diagnosis
    n1=en:incidence of 1 in 250,000 births | n2=en:presence of 4 major features or 3 major and 2 minor features establishes the diagnosis | rel=r_associated | relid=0 | w=26
  5308. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal)
    n1=en:incidence of 1 in 250,000 births | n2=en:presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal) | rel=r_associated | relid=0 | w=26
  5309. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:prevalence 1-2% in northern european populations
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence 1-2% in northern european populations | rel=r_associated | relid=0 | w=26
  5310. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:prevalence of 1 in 150,000
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 1 in 150,000 | rel=r_associated | relid=0 | w=26
  5311. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:prevalence of 1 in 300,000 in quebec
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalence of 1 in 300,000 in quebec | rel=r_associated | relid=0 | w=26
  5312. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:prevalent among individuals of east asian descent
    n1=en:incidence of 1 in 250,000 births | n2=en:prevalent among individuals of east asian descent | rel=r_associated | relid=0 | w=26
  5313. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:probably autosomal dominant with rare instances of affected sibs due to germinal mosaicism
    n1=en:incidence of 1 in 250,000 births | n2=en:probably autosomal dominant with rare instances of affected sibs due to germinal mosaicism | rel=r_associated | relid=0 | w=26
  5314. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:profound dementia and death usually occurs by age 50 years
    n1=en:incidence of 1 in 250,000 births | n2=en:profound dementia and death usually occurs by age 50 years | rel=r_associated | relid=0 | w=26
  5315. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:progression more frequent in men than women
    n1=en:incidence of 1 in 250,000 births | n2=en:progression more frequent in men than women | rel=r_associated | relid=0 | w=26
  5316. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:rapidly progressive disorder
    n1=en:incidence of 1 in 250,000 births | n2=en:rapidly progressive disorder | rel=r_associated | relid=0 | w=26
  5317. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:rapidly progressive neonatal onset with early death
    n1=en:incidence of 1 in 250,000 births | n2=en:rapidly progressive neonatal onset with early death | rel=r_associated | relid=0 | w=26
  5318. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:rare patients with homozygous null mutations have most severe disease
    n1=en:incidence of 1 in 250,000 births | n2=en:rare patients with homozygous null mutations have most severe disease | rel=r_associated | relid=0 | w=26
  5319. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:rarely, patients with childhood-onset may lose the renal phosphate-wasting defect
    n1=en:incidence of 1 in 250,000 births | n2=en:rarely, patients with childhood-onset may lose the renal phosphate-wasting defect | rel=r_associated | relid=0 | w=26
  5320. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:recurrence is possible
    n1=en:incidence of 1 in 250,000 births | n2=en:recurrence is possible | rel=r_associated | relid=0 | w=26
  5321. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy
    n1=en:incidence of 1 in 250,000 births | n2=en:recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy | rel=r_associated | relid=0 | w=26
  5322. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:reduced fetal movement
    n1=en:incidence of 1 in 250,000 births | n2=en:reduced fetal movement | rel=r_associated | relid=0 | w=26
  5323. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:reduced penetrance in females
    n1=en:incidence of 1 in 250,000 births | n2=en:reduced penetrance in females | rel=r_associated | relid=0 | w=26
  5324. en:incidence of 1 in 250,000 births -- 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:incidence of 1 in 250,000 births | 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
  5325. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:reported cases all sporadic
    n1=en:incidence of 1 in 250,000 births | n2=en:reported cases all sporadic | rel=r_associated | relid=0 | w=26
  5326. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:response to benadryl (diphenhydramine)
    n1=en:incidence of 1 in 250,000 births | n2=en:response to benadryl (diphenhydramine) | rel=r_associated | relid=0 | w=26
  5327. en:incidence of 1 in 250,000 births -- 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:incidence of 1 in 250,000 births | 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
  5328. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:risk of sudden death in childhood due to cardiac arrest
    n1=en:incidence of 1 in 250,000 births | n2=en:risk of sudden death in childhood due to cardiac arrest | rel=r_associated | relid=0 | w=26
  5329. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:sca8 is caused by bidirectional transcription on chromosome 13q21 involving complementary repeat expansion in atxn8 (613289) and atxn8-opposite strand (603680)
    n1=en:incidence of 1 in 250,000 births | 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=26
  5330. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:secondary features include arterial hypertension and renal involvement
    n1=en:incidence of 1 in 250,000 births | n2=en:secondary features include arterial hypertension and renal involvement | rel=r_associated | relid=0 | w=26
  5331. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:see 177850 for description of heterozygous phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:see 177850 for description of heterozygous phenotype | rel=r_associated | relid=0 | w=26
  5332. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:see 218400 for an autosomal recessive form caused by mutation in gja1 (121014.0021)
    n1=en:incidence of 1 in 250,000 births | n2=en:see 218400 for an autosomal recessive form caused by mutation in gja1 (121014.0021) | rel=r_associated | relid=0 | w=26
  5333. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:see also autosomal recessive form (612304)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also autosomal recessive form (612304) | rel=r_associated | relid=0 | w=26
  5334. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:see also cmtx1 (302800) and cmtx2 (302801)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also cmtx1 (302800) and cmtx2 (302801) | rel=r_associated | relid=0 | w=26
  5335. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:see also dent disease 2 (300555)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also dent disease 2 (300555) | rel=r_associated | relid=0 | w=26
  5336. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> 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:incidence of 1 in 250,000 births | 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=26
  5337. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:see also later childhood-onset form (300718)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also later childhood-onset form (300718) | rel=r_associated | relid=0 | w=26
  5338. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:see also pgl1 (168000)
    n1=en:incidence of 1 in 250,000 births | n2=en:see also pgl1 (168000) | rel=r_associated | relid=0 | w=26
  5339. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:seizure frequency decreases during early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:seizure frequency decreases during early childhood | rel=r_associated | relid=0 | w=26
  5340. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:seizure onset in first months or years of life
    n1=en:incidence of 1 in 250,000 births | n2=en:seizure onset in first months or years of life | rel=r_associated | relid=0 | w=26
  5341. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:seizures and dystonia peak during childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures and dystonia peak during childhood | rel=r_associated | relid=0 | w=26
  5342. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:seizures become nearly continuous
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures become nearly continuous | rel=r_associated | relid=0 | w=26
  5343. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:seizures may persist into adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures may persist into adulthood | rel=r_associated | relid=0 | w=26
  5344. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:sensorineural hearing loss may be presenting feature
    n1=en:incidence of 1 in 250,000 births | n2=en:sensorineural hearing loss may be presenting feature | rel=r_associated | relid=0 | w=26
  5345. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:service comment 24:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=26
  5346. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:service comment 55:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=26
  5347. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:service comment 75:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=26
  5348. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:service comment 77:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=26
  5349. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:seventy percent of cases are stillborn
    n1=en:incidence of 1 in 250,000 births | n2=en:seventy percent of cases are stillborn | rel=r_associated | relid=0 | w=26
  5350. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:severe ambulatory restriction
    n1=en:incidence of 1 in 250,000 births | n2=en:severe ambulatory restriction | rel=r_associated | relid=0 | w=26
  5351. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:severe infantile form presents before 6 months
    n1=en:incidence of 1 in 250,000 births | n2=en:severe infantile form presents before 6 months | rel=r_associated | relid=0 | w=26
  5352. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:severity of clinical phenotype varies both within and between kindreds
    n1=en:incidence of 1 in 250,000 births | n2=en:severity of clinical phenotype varies both within and between kindreds | rel=r_associated | relid=0 | w=26
  5353. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:sexual infantilism
    n1=en:incidence of 1 in 250,000 births | n2=en:sexual infantilism | rel=r_associated | relid=0 | w=26
  5354. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:short umbilical cord
    n1=en:incidence of 1 in 250,000 births | n2=en:short umbilical cord | rel=r_associated | relid=0 | w=26
  5355. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:significant clinical overlap with sotos syndrome (117550)
    n1=en:incidence of 1 in 250,000 births | n2=en:significant clinical overlap with sotos syndrome (117550) | rel=r_associated | relid=0 | w=26
  5356. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:sister of affected male siblings had mild learning disabilities and obesity
    n1=en:incidence of 1 in 250,000 births | n2=en:sister of affected male siblings had mild learning disabilities and obesity | rel=r_associated | relid=0 | w=26
  5357. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:six patients from 4 families have been reported (last curated january 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:six patients from 4 families have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=26
  5358. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:skeletal abnormalities are variable
    n1=en:incidence of 1 in 250,000 births | n2=en:skeletal abnormalities are variable | rel=r_associated | relid=0 | w=26
  5359. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:skin changes are progressive in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:skin changes are progressive in childhood | rel=r_associated | relid=0 | w=26
  5360. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:skin changes have onset in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:skin changes have onset in childhood | rel=r_associated | relid=0 | w=26
  5361. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:skin manifestation less frequently observed in cold climates
    n1=en:incidence of 1 in 250,000 births | n2=en:skin manifestation less frequently observed in cold climates | rel=r_associated | relid=0 | w=26
  5362. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:skin manifestations are more severe and of later onset than papillon-lefevre syndrome
    n1=en:incidence of 1 in 250,000 births | n2=en:skin manifestations are more severe and of later onset than papillon-lefevre syndrome | rel=r_associated | relid=0 | w=26
  5363. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:slow, progressive growth, then stable
    n1=en:incidence of 1 in 250,000 births | n2=en:slow, progressive growth, then stable | rel=r_associated | relid=0 | w=26
  5364. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:some female carriers are more mildly affected
    n1=en:incidence of 1 in 250,000 births | n2=en:some female carriers are more mildly affected | rel=r_associated | relid=0 | w=26
  5365. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:some females are affected
    n1=en:incidence of 1 in 250,000 births | n2=en:some females are affected | rel=r_associated | relid=0 | w=26
  5366. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes
    n1=en:incidence of 1 in 250,000 births | n2=en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes | rel=r_associated | relid=0 | w=26
  5367. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:some patients are asymptomatic and detected only by newborn screening
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients are asymptomatic and detected only by newborn screening | rel=r_associated | relid=0 | w=26
  5368. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:some patients have a contiguous gene defect involving both the cyp21a2 (613815) and the tnxb (600985) genes
    n1=en:incidence of 1 in 250,000 births | 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=26
  5369. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:some patients have cessation of seizures at a mean of 12 years
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients have cessation of seizures at a mean of 12 years | rel=r_associated | relid=0 | w=26
  5370. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:some patients have no clinical symptoms and are detected by routine newborn screening
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients have no clinical symptoms and are detected by routine newborn screening | rel=r_associated | relid=0 | w=26
  5371. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:some patients have subclinical exocrine pancreatic deficiency
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients have subclinical exocrine pancreatic deficiency | rel=r_associated | relid=0 | w=26
  5372. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:some patients may be clinically asymptomatic
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may be clinically asymptomatic | rel=r_associated | relid=0 | w=26
  5373. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:some patients may become bedridden 10 to 20 years after onset
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may become bedridden 10 to 20 years after onset | rel=r_associated | relid=0 | w=26
  5374. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:some patients may become wheelchair-bound
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may become wheelchair-bound | rel=r_associated | relid=0 | w=26
  5375. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:some patients may develop concurrent failure to thrive and dyslipidemia
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may develop concurrent failure to thrive and dyslipidemia | rel=r_associated | relid=0 | w=26
  5376. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:some patients may develop interictal progressive ataxia
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may develop interictal progressive ataxia | rel=r_associated | relid=0 | w=26
  5377. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:some patients may have isolated cardiac involvement
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may have isolated cardiac involvement | rel=r_associated | relid=0 | w=26
  5378. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:some patients may have isolated myokymia
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may have isolated myokymia | rel=r_associated | relid=0 | w=26
  5379. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:some patients may not have recurrent infections
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may not have recurrent infections | rel=r_associated | relid=0 | w=26
  5380. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:some patients present with apparent nonsyndromic dilated cardiomyopathy in early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients present with apparent nonsyndromic dilated cardiomyopathy in early childhood | rel=r_associated | relid=0 | w=26
  5381. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:some patients show onset in childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients show onset in childhood | rel=r_associated | relid=0 | w=26
  5382. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:stage ii, rapid developmental regression (onset 1-4 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:stage ii, rapid developmental regression (onset 1-4 years) | rel=r_associated | relid=0 | w=26
  5383. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:stillbirth
    n1=en:incidence of 1 in 250,000 births | n2=en:stillbirth | rel=r_associated | relid=0 | w=26
  5384. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:supervisor review:impression/interpretation of study:point in time:to be specified in another part of the message:nominal
    n1=en:incidence of 1 in 250,000 births | 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=26
  5385. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:swelling starts to fade by age 30 years and gradually becomes unremarkable
    n1=en:incidence of 1 in 250,000 births | n2=en:swelling starts to fade by age 30 years and gradually becomes unremarkable | rel=r_associated | relid=0 | w=26
  5386. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:symptoms are responsive to cobalamin treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms are responsive to cobalamin treatment | rel=r_associated | relid=0 | w=26
  5387. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:symptoms may be exacerbated by pregnancy or trauma
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms may be exacerbated by pregnancy or trauma | rel=r_associated | relid=0 | w=26
  5388. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:symptoms occur only during pregnancy (usual onset after 6 weeks gestation)
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms occur only during pregnancy (usual onset after 6 weeks gestation) | rel=r_associated | relid=0 | w=26
  5389. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation | rel=r_associated | relid=0 | w=26
  5390. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:symptoms precipitated by stress, exertion, fatigue, alcohol
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms precipitated by stress, exertion, fatigue, alcohol | rel=r_associated | relid=0 | w=26
  5391. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:symptoms usually last 30-60 minutes
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms usually last 30-60 minutes | rel=r_associated | relid=0 | w=26
  5392. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:systemic amyloid deposition may occur
    n1=en:incidence of 1 in 250,000 births | n2=en:systemic amyloid deposition may occur | rel=r_associated | relid=0 | w=26
  5393. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:telangiectases persist in adulthood
    n1=en:incidence of 1 in 250,000 births | n2=en:telangiectases persist in adulthood | rel=r_associated | relid=0 | w=26
  5394. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:telangiectasia become evident between the second and eighth year of life
    n1=en:incidence of 1 in 250,000 births | n2=en:telangiectasia become evident between the second and eighth year of life | rel=r_associated | relid=0 | w=26
  5395. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:the majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract
    n1=en:incidence of 1 in 250,000 births | 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=26
  5396. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:three families described (last curated january 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:three families described (last curated january 2014) | rel=r_associated | relid=0 | w=26
  5397. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:three families have been reported (as of december 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:three families have been reported (as of december 2011) | rel=r_associated | relid=0 | w=26
  5398. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:three girls from 2 unrelated families have been reported (last curated june 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:three girls from 2 unrelated families have been reported (last curated june 2014) | rel=r_associated | relid=0 | w=26
  5399. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:three main clinical forms
    n1=en:incidence of 1 in 250,000 births | n2=en:three main clinical forms | rel=r_associated | relid=0 | w=26
  5400. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:three main phenotypes
    n1=en:incidence of 1 in 250,000 births | n2=en:three main phenotypes | rel=r_associated | relid=0 | w=26
  5401. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:three males in 1 family have been reported (last curated august 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:three males in 1 family have been reported (last curated august 2012) | rel=r_associated | relid=0 | w=26
  5402. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:three unrelated turkish families have been reported (last curated september 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:three unrelated turkish families have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=26
  5403. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:thromboembolism is the most common cause of death
    n1=en:incidence of 1 in 250,000 births | n2=en:thromboembolism is the most common cause of death | rel=r_associated | relid=0 | w=26
  5404. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:treatment with enzyme replacement therapy
    n1=en:incidence of 1 in 250,000 births | n2=en:treatment with enzyme replacement therapy | rel=r_associated | relid=0 | w=26
  5405. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:triggers are variable, even within a family
    n1=en:incidence of 1 in 250,000 births | n2=en:triggers are variable, even within a family | rel=r_associated | relid=0 | w=26
  5406. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:tumors are microsatellite stable
    n1=en:incidence of 1 in 250,000 births | n2=en:tumors are microsatellite stable | rel=r_associated | relid=0 | w=26
  5407. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:tumors usually develop between 40 and 60 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:tumors usually develop between 40 and 60 years of age | rel=r_associated | relid=0 | w=26
  5408. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:two consanguineous turkish families have been reported (last curated january 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:two consanguineous turkish families have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=26
  5409. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:two families have been reported (as of curation date april 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two families have been reported (as of curation date april 2014) | rel=r_associated | relid=0 | w=26
  5410. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:two families have been reported (as of march 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two families have been reported (as of march 2012) | rel=r_associated | relid=0 | w=26
  5411. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:two patients from 1 italian family have been reported (as of april 2010)
    n1=en:incidence of 1 in 250,000 births | n2=en:two patients from 1 italian family have been reported (as of april 2010) | rel=r_associated | relid=0 | w=26
  5412. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:two patients in one ashkenzai jewish family described (last curated june 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two patients in one ashkenzai jewish family described (last curated june 2014) | rel=r_associated | relid=0 | w=26
  5413. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:two sibs have been reported (last curated july 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:two sibs have been reported (last curated july 2013) | rel=r_associated | relid=0 | w=26
  5414. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:two unrelated families have been reported (last curated july 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated families have been reported (last curated july 2014) | rel=r_associated | relid=0 | w=26
  5415. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:two unrelated families have been reported (last curated june 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated families have been reported (last curated june 2012) | rel=r_associated | relid=0 | w=26
  5416. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:two unrelated families have been reported (last curated september 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated families have been reported (last curated september 2012) | rel=r_associated | relid=0 | w=26
  5417. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:two unrelated families have been reported (last curated september 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated families have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=26
  5418. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:two unrelated families have been reported, 1 showing autosomal dominant inheritance and 1 showing autosomal recessive inheritance (last curated february 2014)
    n1=en:incidence of 1 in 250,000 births | 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=26
  5419. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:two unrelated individuals have been reported (last curated january 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated individuals have been reported (last curated january 2014) | rel=r_associated | relid=0 | w=26
  5420. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:two unrelated patients have been reported (as of may 2011)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients have been reported (as of may 2011) | rel=r_associated | relid=0 | w=26
  5421. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:two unrelated patients have been reported (last curated august 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients have been reported (last curated august 2013) | rel=r_associated | relid=0 | w=26
  5422. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:two unrelated patients have been reported (last curated december 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients have been reported (last curated december 2012) | rel=r_associated | relid=0 | w=26
  5423. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:two unrelated patients have been reported (last curated june 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients have been reported (last curated june 2013) | rel=r_associated | relid=0 | w=26
  5424. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:two unrelated patients with confirmed mutations have been reported (as of january 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients with confirmed mutations have been reported (as of january 2012) | rel=r_associated | relid=0 | w=26
  5425. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:two unrelated patients with epileptic encephalopathy have been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients with epileptic encephalopathy have been reported | rel=r_associated | relid=0 | w=26
  5426. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations)
    n1=en:incidence of 1 in 250,000 births | n2=en:two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations) | rel=r_associated | relid=0 | w=26
  5427. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:type 2a is characterized by deficiency of high molecular weight monomers
    n1=en:incidence of 1 in 250,000 births | n2=en:type 2a is characterized by deficiency of high molecular weight monomers | rel=r_associated | relid=0 | w=26
  5428. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:type 2n is characterized by decreased binding affinity for factor viii
    n1=en:incidence of 1 in 250,000 births | n2=en:type 2n is characterized by decreased binding affinity for factor viii | rel=r_associated | relid=0 | w=26
  5429. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:type i onset at 8 to 15 months of age after normal development
    n1=en:incidence of 1 in 250,000 births | n2=en:type i onset at 8 to 15 months of age after normal development | rel=r_associated | relid=0 | w=26
  5430. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:type ii is progressive and leads to shortened lifespan
    n1=en:incidence of 1 in 250,000 births | n2=en:type ii is progressive and leads to shortened lifespan | rel=r_associated | relid=0 | w=26
  5431. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:uncommon and rare features seen in the most severely affected patients
    n1=en:incidence of 1 in 250,000 births | n2=en:uncommon and rare features seen in the most severely affected patients | rel=r_associated | relid=0 | w=26
  5432. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance
    n1=en:incidence of 1 in 250,000 births | n2=en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance | rel=r_associated | relid=0 | w=26
  5433. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:urine turns dark on standing and alkalinization
    n1=en:incidence of 1 in 250,000 births | n2=en:urine turns dark on standing and alkalinization | rel=r_associated | relid=0 | w=26
  5434. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:ush3 cases account for 40% of all usher patients in finland
    n1=en:incidence of 1 in 250,000 births | n2=en:ush3 cases account for 40% of all usher patients in finland | rel=r_associated | relid=0 | w=26
  5435. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:usually a manifestation of the carney complex (cnc1, 1609890)
    n1=en:incidence of 1 in 250,000 births | n2=en:usually a manifestation of the carney complex (cnc1, 1609890) | rel=r_associated | relid=0 | w=26
  5436. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:usually fatal within the first few weeks of life
    n1=en:incidence of 1 in 250,000 births | n2=en:usually fatal within the first few weeks of life | rel=r_associated | relid=0 | w=26
  5437. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:usually favorable response to treatment
    n1=en:incidence of 1 in 250,000 births | n2=en:usually favorable response to treatment | rel=r_associated | relid=0 | w=26
  5438. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:usually lethal in the neonatal period
    n1=en:incidence of 1 in 250,000 births | n2=en:usually lethal in the neonatal period | rel=r_associated | relid=0 | w=26
  5439. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:usually sporadic
    n1=en:incidence of 1 in 250,000 births | n2=en:usually sporadic | rel=r_associated | relid=0 | w=26
  5440. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> 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:incidence of 1 in 250,000 births | 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=26
  5441. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:variable age at onset (birth to adolescence)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset (birth to adolescence) | rel=r_associated | relid=0 | w=26
  5442. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:variable age at onset, ranging from 18 months to 27 years
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age at onset, ranging from 18 months to 27 years | rel=r_associated | relid=0 | w=26
  5443. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:variable age of onset (range 4 to 47 years)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age of onset (range 4 to 47 years) | rel=r_associated | relid=0 | w=26
  5444. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:variable age of onset (range early childhood to adult)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable age of onset (range early childhood to adult) | rel=r_associated | relid=0 | w=26
  5445. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:variable clinical presentation ranging from acute onset to normal adult
    n1=en:incidence of 1 in 250,000 births | n2=en:variable clinical presentation ranging from acute onset to normal adult | rel=r_associated | relid=0 | w=26
  5446. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:variable expression and severity
    n1=en:incidence of 1 in 250,000 births | n2=en:variable expression and severity | rel=r_associated | relid=0 | w=26
  5447. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:variable frequency (weekly to yearly)
    n1=en:incidence of 1 in 250,000 births | n2=en:variable frequency (weekly to yearly) | rel=r_associated | relid=0 | w=26
  5448. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:variable phenotype, some patients have very mild symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:variable phenotype, some patients have very mild symptoms | rel=r_associated | relid=0 | w=26
  5449. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:variable presentation and manifestations
    n1=en:incidence of 1 in 250,000 births | n2=en:variable presentation and manifestations | rel=r_associated | relid=0 | w=26
  5450. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:variable response to acetylcholinesterase inhibitors
    n1=en:incidence of 1 in 250,000 births | n2=en:variable response to acetylcholinesterase inhibitors | rel=r_associated | relid=0 | w=26
  5451. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:variation in slc24a5 has also been associated with variation in skin color (shep4)
    n1=en:incidence of 1 in 250,000 births | n2=en:variation in slc24a5 has also been associated with variation in skin color (shep4) | rel=r_associated | relid=0 | w=26
  5452. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:very rare
    n1=en:incidence of 1 in 250,000 births | n2=en:very rare | rel=r_associated | relid=0 | w=26
  5453. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:virtually all patients with this condition are female
    n1=en:incidence of 1 in 250,000 births | n2=en:virtually all patients with this condition are female | rel=r_associated | relid=0 | w=26
  5454. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:waddling gate
    n1=en:incidence of 1 in 250,000 births | n2=en:waddling gate | rel=r_associated | relid=0 | w=26
  5455. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:worsening of symptoms during sleep
    n1=en:incidence of 1 in 250,000 births | n2=en:worsening of symptoms during sleep | rel=r_associated | relid=0 | w=26
  5456. en:incidence of 1 in 250,000 births -- r_associated #0: 26 / 0.605 -> en:young adult onset
    n1=en:incidence of 1 in 250,000 births | n2=en:young adult onset | rel=r_associated | relid=0 | w=26
  5457. en:incidence of 1 in 250,000 births -- r_associated #0: 25 / 0.581 -> naissances
    n1=en:incidence of 1 in 250,000 births | n2=naissances | rel=r_associated | relid=0 | w=25
  5458. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> algie articulaire
    n1=en:incidence of 1 in 250,000 births | n2=algie articulaire | rel=r_associated | relid=0 | w=20
  5459. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> anomalie du développement
    n1=en:incidence of 1 in 250,000 births | n2=anomalie du développement | rel=r_associated | relid=0 | w=20
  5460. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> arthralgie
    n1=en:incidence of 1 in 250,000 births | n2=arthralgie | rel=r_associated | relid=0 | w=20
  5461. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> déficience congénitale
    n1=en:incidence of 1 in 250,000 births | n2=déficience congénitale | rel=r_associated | relid=0 | w=20
  5462. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> déformation congénitale
    n1=en:incidence of 1 in 250,000 births | n2=déformation congénitale | rel=r_associated | relid=0 | w=20
  5463. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> difformité congénitale
    n1=en:incidence of 1 in 250,000 births | n2=difformité congénitale | rel=r_associated | relid=0 | w=20
  5464. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> douleur articulaire
    n1=en:incidence of 1 in 250,000 births | n2=douleur articulaire | rel=r_associated | relid=0 | w=20
  5465. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> douleur dans une articulation
    n1=en:incidence of 1 in 250,000 births | n2=douleur dans une articulation | rel=r_associated | relid=0 | w=20
  5466. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> élargissement du polygone de sustentation
    n1=en:incidence of 1 in 250,000 births | n2=élargissement du polygone de sustentation | rel=r_associated | relid=0 | w=20
  5467. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth
    n1=en:incidence of 1 in 250,000 births | n2=en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth | rel=r_associated | relid=0 | w=20
  5468. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:affected individuals have a relatively mild ichthyosis phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:affected individuals have a relatively mild ichthyosis phenotype | rel=r_associated | relid=0 | w=20
  5469. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:affected individuals may have more than 1 cardiac structural defect, or none at all
    n1=en:incidence of 1 in 250,000 births | n2=en:affected individuals may have more than 1 cardiac structural defect, or none at all | rel=r_associated | relid=0 | w=20
  5470. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:age of onset between 5 and 10 years of age
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset between 5 and 10 years of age | rel=r_associated | relid=0 | w=20
  5471. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:age of onset varies ranging from 3 weeks to 22 years
    n1=en:incidence of 1 in 250,000 births | n2=en:age of onset varies ranging from 3 weeks to 22 years | rel=r_associated | relid=0 | w=20
  5472. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:asymmetric muscle involvement
    n1=en:incidence of 1 in 250,000 births | n2=en:asymmetric muscle involvement | rel=r_associated | relid=0 | w=20
  5473. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:asymptomatic patients may show changes on sd-oct
    n1=en:incidence of 1 in 250,000 births | n2=en:asymptomatic patients may show changes on sd-oct | rel=r_associated | relid=0 | w=20
  5474. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:autoimmune features are variable
    n1=en:incidence of 1 in 250,000 births | n2=en:autoimmune features are variable | rel=r_associated | relid=0 | w=20
  5475. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015) | rel=r_associated | relid=0 | w=20
  5476. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:based on one jordanian family (last curated august 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on one jordanian family (last curated august 2015) | rel=r_associated | relid=0 | w=20
  5477. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:based on one large dutch family (last curated august 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on one large dutch family (last curated august 2015) | rel=r_associated | relid=0 | w=20
  5478. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:based on one sib pair each in their seventies
    n1=en:incidence of 1 in 250,000 births | n2=en:based on one sib pair each in their seventies | rel=r_associated | relid=0 | w=20
  5479. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:based on report of 2 individuals (last curated november 2013)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on report of 2 individuals (last curated november 2013) | rel=r_associated | relid=0 | w=20
  5480. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:based on report of 4 patients from 1 family (last curated july 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:based on report of 4 patients from 1 family (last curated july 2015) | rel=r_associated | relid=0 | w=20
  5481. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:birth defect
    n1=en:incidence of 1 in 250,000 births | n2=en:birth defect | rel=r_associated | relid=0 | w=20
  5482. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:both mutations occurred de novo
    n1=en:incidence of 1 in 250,000 births | n2=en:both mutations occurred de novo | rel=r_associated | relid=0 | w=20
  5483. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:can also be caused by contiguous gene deletion on chromosome 22q11.2
    n1=en:incidence of 1 in 250,000 births | n2=en:can also be caused by contiguous gene deletion on chromosome 22q11.2 | rel=r_associated | relid=0 | w=20
  5484. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:cardiac examination is usually unremarkable
    n1=en:incidence of 1 in 250,000 births | n2=en:cardiac examination is usually unremarkable | rel=r_associated | relid=0 | w=20
  5485. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:cardiomyopathy is not a feature
    n1=en:incidence of 1 in 250,000 births | n2=en:cardiomyopathy is not a feature | rel=r_associated | relid=0 | w=20
  5486. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:carrier females may have mild intellectual disability
    n1=en:incidence of 1 in 250,000 births | n2=en:carrier females may have mild intellectual disability | rel=r_associated | relid=0 | w=20
  5487. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:clinical variability, both pure and complicated forms
    n1=en:incidence of 1 in 250,000 births | n2=en:clinical variability, both pure and complicated forms | rel=r_associated | relid=0 | w=20
  5488. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:congenital anomaly
    n1=en:incidence of 1 in 250,000 births | n2=en:congenital anomaly | rel=r_associated | relid=0 | w=20
  5489. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:congenital defect
    n1=en:incidence of 1 in 250,000 births | n2=en:congenital defect | rel=r_associated | relid=0 | w=20
  5490. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:congenital malformation
    n1=en:incidence of 1 in 250,000 births | n2=en:congenital malformation | rel=r_associated | relid=0 | w=20
  5491. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:developmental anomaly
    n1=en:incidence of 1 in 250,000 births | n2=en:developmental anomaly | rel=r_associated | relid=0 | w=20
  5492. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:developmental fault
    n1=en:incidence of 1 in 250,000 births | n2=en:developmental fault | rel=r_associated | relid=0 | w=20
  5493. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:disease shows slow progression
    n1=en:incidence of 1 in 250,000 births | n2=en:disease shows slow progression | rel=r_associated | relid=0 | w=20
  5494. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:exacerbated by stress
    n1=en:incidence of 1 in 250,000 births | n2=en:exacerbated by stress | rel=r_associated | relid=0 | w=20
  5495. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:family a had a severe multisystem disorder resulting in death before age 2 years
    n1=en:incidence of 1 in 250,000 births | n2=en:family a had a severe multisystem disorder resulting in death before age 2 years | rel=r_associated | relid=0 | w=20
  5496. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:first fracture in early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:first fracture in early childhood | rel=r_associated | relid=0 | w=20
  5497. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:four patients from 3 families have been reported (last curated march 2016)
    n1=en:incidence of 1 in 250,000 births | n2=en:four patients from 3 families have been reported (last curated march 2016) | rel=r_associated | relid=0 | w=20
  5498. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:four unrelated families have been reported (last curated august 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:four unrelated families have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=20
  5499. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:four unrelated families have been reported (last curated september 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:four unrelated families have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=20
  5500. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:genetic heterogeneity (see mcc1 deficiency 210200)
    n1=en:incidence of 1 in 250,000 births | n2=en:genetic heterogeneity (see mcc1 deficiency 210200) | rel=r_associated | relid=0 | w=20
  5501. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:hearing loss occurs later if at all
    n1=en:incidence of 1 in 250,000 births | n2=en:hearing loss occurs later if at all | rel=r_associated | relid=0 | w=20
  5502. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:heterozygous females may have situs inversus or other midline defects
    n1=en:incidence of 1 in 250,000 births | n2=en:heterozygous females may have situs inversus or other midline defects | rel=r_associated | relid=0 | w=20
  5503. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:high frequency hearing loss progresses to include all frequencies
    n1=en:incidence of 1 in 250,000 births | n2=en:high frequency hearing loss progresses to include all frequencies | rel=r_associated | relid=0 | w=20
  5504. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:highly variable severity and features
    n1=en:incidence of 1 in 250,000 births | n2=en:highly variable severity and features | rel=r_associated | relid=0 | w=20
  5505. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:incomplete penetrance in some families
    n1=en:incidence of 1 in 250,000 births | n2=en:incomplete penetrance in some families | rel=r_associated | relid=0 | w=20
  5506. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:increased susceptibility to multiple carcinomas
    n1=en:incidence of 1 in 250,000 births | n2=en:increased susceptibility to multiple carcinomas | rel=r_associated | relid=0 | w=20
  5507. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:inflammatory bowel disease may develop in childhood or adolescence
    n1=en:incidence of 1 in 250,000 births | n2=en:inflammatory bowel disease may develop in childhood or adolescence | rel=r_associated | relid=0 | w=20
  5508. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:initial hearing loss is mild progressing to severe or profound by the seventh decade
    n1=en:incidence of 1 in 250,000 births | n2=en:initial hearing loss is mild progressing to severe or profound by the seventh decade | rel=r_associated | relid=0 | w=20
  5509. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> 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:incidence of 1 in 250,000 births | 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=20
  5510. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:intrafamilial variability in number of missing teeth
    n1=en:incidence of 1 in 250,000 births | n2=en:intrafamilial variability in number of missing teeth | rel=r_associated | relid=0 | w=20
  5511. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:joint pain
    n1=en:incidence of 1 in 250,000 births | n2=en:joint pain | rel=r_associated | relid=0 | w=20
  5512. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:ketogenic diet may be effective
    n1=en:incidence of 1 in 250,000 births | n2=en:ketogenic diet may be effective | rel=r_associated | relid=0 | w=20
  5513. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:late-adult onset
    n1=en:incidence of 1 in 250,000 births | n2=en:late-adult onset | rel=r_associated | relid=0 | w=20
  5514. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:later onset of neurologic features
    n1=en:incidence of 1 in 250,000 births | n2=en:later onset of neurologic features | rel=r_associated | relid=0 | w=20
  5515. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:lethal in utero or perinatal lethal
    n1=en:incidence of 1 in 250,000 births | n2=en:lethal in utero or perinatal lethal | rel=r_associated | relid=0 | w=20
  5516. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:major physical defect
    n1=en:incidence of 1 in 250,000 births | n2=en:major physical defect | rel=r_associated | relid=0 | w=20
  5517. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:males tend to have earlier onset than females
    n1=en:incidence of 1 in 250,000 births | n2=en:males tend to have earlier onset than females | rel=r_associated | relid=0 | w=20
  5518. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:marked intrafamilial variability of clinical features
    n1=en:incidence of 1 in 250,000 births | n2=en:marked intrafamilial variability of clinical features | rel=r_associated | relid=0 | w=20
  5519. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:metabolic encephalomyopathic crises often triggered by infection
    n1=en:incidence of 1 in 250,000 births | n2=en:metabolic encephalomyopathic crises often triggered by infection | rel=r_associated | relid=0 | w=20
  5520. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:most patients become wheelchair-bound in the second or third decades
    n1=en:incidence of 1 in 250,000 births | n2=en:most patients become wheelchair-bound in the second or third decades | rel=r_associated | relid=0 | w=20
  5521. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:nine patients have been reported (last curated july 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:nine patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=20
  5522. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:no consistent dysmorphic facial phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
  5523. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:no extraocular findings
    n1=en:incidence of 1 in 250,000 births | n2=en:no extraocular findings | rel=r_associated | relid=0 | w=20
  5524. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate
    n1=en:incidence of 1 in 250,000 births | n2=en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate | rel=r_associated | relid=0 | w=20
  5525. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:one family and 2 unrelated patients have been reported (last curated december 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:one family and 2 unrelated patients have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=20
  5526. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:one lebanese family has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:one lebanese family has been reported | rel=r_associated | relid=0 | w=20
  5527. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:one patient has been reported (last curated august 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient has been reported (last curated august 2015) | rel=r_associated | relid=0 | w=20
  5528. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:one patient reported (last curated november 2012)
    n1=en:incidence of 1 in 250,000 births | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
  5529. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:onset in first decade (as early as infancy in some)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in first decade (as early as infancy in some) | rel=r_associated | relid=0 | w=20
  5530. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:onset in first decade after normal early development
    n1=en:incidence of 1 in 250,000 births | n2=en:onset in first decade after normal early development | rel=r_associated | relid=0 | w=20
  5531. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:onset of night blindness varies among patients from early childhood to mid thirties
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of night blindness varies among patients from early childhood to mid thirties | rel=r_associated | relid=0 | w=20
  5532. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:onset of overgrowth in the first year of life (in most cases)
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of overgrowth in the first year of life (in most cases) | rel=r_associated | relid=0 | w=20
  5533. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:onset of symptoms in early childhood in most patients
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of symptoms in early childhood in most patients | rel=r_associated | relid=0 | w=20
  5534. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:onset of visual dysfunction in early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:onset of visual dysfunction in early childhood | rel=r_associated | relid=0 | w=20
  5535. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:osteoglophonic, derived from greek meaning hollowed out
    n1=en:incidence of 1 in 250,000 births | n2=en:osteoglophonic, derived from greek meaning hollowed out | rel=r_associated | relid=0 | w=20
  5536. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period
    n1=en:incidence of 1 in 250,000 births | 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=20
  5537. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms
    n1=en:incidence of 1 in 250,000 births | n2=en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms | rel=r_associated | relid=0 | w=20
  5538. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:patients may die in infancy or childhood due to respiratory failure
    n1=en:incidence of 1 in 250,000 births | n2=en:patients may die in infancy or childhood due to respiratory failure | rel=r_associated | relid=0 | w=20
  5539. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported | rel=r_associated | relid=0 | w=20
  5540. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:penetrance estimated to be 80%
    n1=en:incidence of 1 in 250,000 births | n2=en:penetrance estimated to be 80% | rel=r_associated | relid=0 | w=20
  5541. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene
    n1=en:incidence of 1 in 250,000 births | n2=en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene | rel=r_associated | relid=0 | w=20
  5542. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:physical defect
    n1=en:incidence of 1 in 250,000 births | n2=en:physical defect | rel=r_associated | relid=0 | w=20
  5543. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:pigmentation not always butterfly-shaped
    n1=en:incidence of 1 in 250,000 births | n2=en:pigmentation not always butterfly-shaped | rel=r_associated | relid=0 | w=20
  5544. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:polyhydramnion
    n1=en:incidence of 1 in 250,000 births | n2=en:polyhydramnion | rel=r_associated | relid=0 | w=20
  5545. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:precipitation by pregnancy
    n1=en:incidence of 1 in 250,000 births | n2=en:precipitation by pregnancy | rel=r_associated | relid=0 | w=20
  5546. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:quinidine therapy may be effective
    n1=en:incidence of 1 in 250,000 births | n2=en:quinidine therapy may be effective | rel=r_associated | relid=0 | w=20
  5547. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:recurrent episodes of liver failure during intercurrent infections
    n1=en:incidence of 1 in 250,000 births | n2=en:recurrent episodes of liver failure during intercurrent infections | rel=r_associated | relid=0 | w=20
  5548. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:relatively mild phenotype
    n1=en:incidence of 1 in 250,000 births | n2=en:relatively mild phenotype | rel=r_associated | relid=0 | w=20
  5549. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:retinal holes were present in an asymptomatic female carrier
    n1=en:incidence of 1 in 250,000 births | n2=en:retinal holes were present in an asymptomatic female carrier | rel=r_associated | relid=0 | w=20
  5550. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:retinitis pigmentosa
    n1=en:incidence of 1 in 250,000 births | n2=en:retinitis pigmentosa | rel=r_associated | relid=0 | w=20
  5551. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:seizures remit spontaneously by age 5 years
    n1=en:incidence of 1 in 250,000 births | n2=en:seizures remit spontaneously by age 5 years | rel=r_associated | relid=0 | w=20
  5552. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:skewed x-inactivation, with complete skewing in some individuals
    n1=en:incidence of 1 in 250,000 births | n2=en:skewed x-inactivation, with complete skewing in some individuals | rel=r_associated | relid=0 | w=20
  5553. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:some patients have onset in second decade of life
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients have onset in second decade of life | rel=r_associated | relid=0 | w=20
  5554. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:some patients may show normal early development before seizure onset
    n1=en:incidence of 1 in 250,000 births | n2=en:some patients may show normal early development before seizure onset | rel=r_associated | relid=0 | w=20
  5555. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:Stokes-Adams syndrome
    n1=en:incidence of 1 in 250,000 births | n2=en:Stokes-Adams syndrome | rel=r_associated | relid=0 | w=20
  5556. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:surviving males are postzygotic mosaic for ebp mutations
    n1=en:incidence of 1 in 250,000 births | n2=en:surviving males are postzygotic mosaic for ebp mutations | rel=r_associated | relid=0 | w=20
  5557. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:symptoms present from infancy or early childhood
    n1=en:incidence of 1 in 250,000 births | n2=en:symptoms present from infancy or early childhood | rel=r_associated | relid=0 | w=20
  5558. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:teratosis
    n1=en:incidence of 1 in 250,000 births | n2=en:teratosis | rel=r_associated | relid=0 | w=20
  5559. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:therapy is placement of implantable cardioverter defibrillator (icd)
    n1=en:incidence of 1 in 250,000 births | n2=en:therapy is placement of implantable cardioverter defibrillator (icd) | rel=r_associated | relid=0 | w=20
  5560. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:three fetuses from 1 family have been reported (last curated august 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:three fetuses from 1 family have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=20
  5561. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=20
  5562. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:three unrelated families have been reported (last curated october 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:three unrelated families have been reported (last curated october 2015) | rel=r_associated | relid=0 | w=20
  5563. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:three unrelated patients have been reported (last curated december 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:three unrelated patients have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=20
  5564. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:three unrelated patients have been reported (last curated july 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:three unrelated patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=20
  5565. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:treatment with sulfonylurea can be effective
    n1=en:incidence of 1 in 250,000 births | n2=en:treatment with sulfonylurea can be effective | rel=r_associated | relid=0 | w=20
  5566. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:two families with confirmed adra2b mutations have been reported (last curated june 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:two families with confirmed adra2b mutations have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=20
  5567. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:two sibs each from unrelated saudi arabian families reported (last curated may 2014)
    n1=en:incidence of 1 in 250,000 births | n2=en:two sibs each from unrelated saudi arabian families reported (last curated may 2014) | rel=r_associated | relid=0 | w=20
  5568. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:two sibs from a consanguineous syrian family have been reported (last curated july 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:two sibs from a consanguineous syrian family have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=20
  5569. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:two sibs have been reported (last curated november 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:two sibs have been reported (last curated november 2015) | rel=r_associated | relid=0 | w=20
  5570. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=20
  5571. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:two unrelated consanguineous families have been reported (last curated july 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated consanguineous families have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=20
  5572. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:two unrelated families have been reported (last curated february 2016)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
  5573. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:two unrelated families have been reported (last curated june 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated families have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=20
  5574. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:two unrelated families have been reported (last curated october 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated families have been reported (last curated october 2015) | rel=r_associated | relid=0 | w=20
  5575. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:two unrelated patients have been reported (last curated august 2015)
    n1=en:incidence of 1 in 250,000 births | n2=en:two unrelated patients have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=20
  5576. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:variable severity of clinical and radiologic manifestations
    n1=en:incidence of 1 in 250,000 births | n2=en:variable severity of clinical and radiologic manifestations | rel=r_associated | relid=0 | w=20
  5577. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:weakness during pregnancy in some affected females has been reported
    n1=en:incidence of 1 in 250,000 births | n2=en:weakness during pregnancy in some affected females has been reported | rel=r_associated | relid=0 | w=20
  5578. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> en:wide-based gait
    n1=en:incidence of 1 in 250,000 births | n2=en:wide-based gait | rel=r_associated | relid=0 | w=20
  5579. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> hydramnios
    n1=en:incidence of 1 in 250,000 births | n2=hydramnios | rel=r_associated | relid=0 | w=20
  5580. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> létal
    n1=en:incidence of 1 in 250,000 births | n2=létal | rel=r_associated | relid=0 | w=20
  5581. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> létale
    n1=en:incidence of 1 in 250,000 births | n2=létale | rel=r_associated | relid=0 | w=20
  5582. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> Maladie congénitale
    n1=en:incidence of 1 in 250,000 births | n2=Maladie congénitale | rel=r_associated | relid=0 | w=20
  5583. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> maladie congénitale
    n1=en:incidence of 1 in 250,000 births | n2=maladie congénitale | rel=r_associated | relid=0 | w=20
  5584. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> maladie opportuniste
    n1=en:incidence of 1 in 250,000 births | n2=maladie opportuniste | rel=r_associated | relid=0 | w=20
  5585. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> malformation
    n1=en:incidence of 1 in 250,000 births | n2=malformation | rel=r_associated | relid=0 | w=20
  5586. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> malformation congénitale
    n1=en:incidence of 1 in 250,000 births | n2=malformation congénitale | rel=r_associated | relid=0 | w=20
  5587. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> mort du nouveau-né
    n1=en:incidence of 1 in 250,000 births | n2=mort du nouveau-né | rel=r_associated | relid=0 | w=20
  5588. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> mort néonatale
    n1=en:incidence of 1 in 250,000 births | n2=mort néonatale | rel=r_associated | relid=0 | w=20
  5589. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> pathologie congénitale
    n1=en:incidence of 1 in 250,000 births | n2=pathologie congénitale | rel=r_associated | relid=0 | w=20
  5590. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> polyhydramnios
    n1=en:incidence of 1 in 250,000 births | n2=polyhydramnios | rel=r_associated | relid=0 | w=20
  5591. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> présentation du siège
    n1=en:incidence of 1 in 250,000 births | n2=présentation du siège | rel=r_associated | relid=0 | w=20
  5592. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire d'apparition tardive
    n1=en:incidence of 1 in 250,000 births | n2=rétinite pigmentaire d'apparition tardive | rel=r_associated | relid=0 | w=20
  5593. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire liée à la périphérine (pro219leu)
    n1=en:incidence of 1 in 250,000 births | n2=rétinite pigmentaire liée à la périphérine (pro219leu) | rel=r_associated | relid=0 | w=20
  5594. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire liée au sexe récessive 3
    n1=en:incidence of 1 in 250,000 births | n2=rétinite pigmentaire liée au sexe récessive 3 | rel=r_associated | relid=0 | w=20
  5595. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire, surdité, retard mental, et hypogonadisme
    n1=en:incidence of 1 in 250,000 births | n2=rétinite pigmentaire, surdité, retard mental, et hypogonadisme | rel=r_associated | relid=0 | w=20
  5596. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> septicémie du nouveau-né
    n1=en:incidence of 1 in 250,000 births | n2=septicémie du nouveau-né | rel=r_associated | relid=0 | w=20
  5597. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> septicémie néonatale
    n1=en:incidence of 1 in 250,000 births | n2=septicémie néonatale | rel=r_associated | relid=0 | w=20
  5598. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> tare congénitale
    n1=en:incidence of 1 in 250,000 births | n2=tare congénitale | rel=r_associated | relid=0 | w=20
  5599. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> une anomalie congénitale
    n1=en:incidence of 1 in 250,000 births | n2=une anomalie congénitale | rel=r_associated | relid=0 | w=20
  5600. en:incidence of 1 in 250,000 births -- r_associated #0: 20 / 0.465 -> vice de conformation
    n1=en:incidence of 1 in 250,000 births | n2=vice de conformation | rel=r_associated | relid=0 | w=20
≈ 5663 relations entrantes

  1. anomalie congénitale --- r_associated #0: 429 --> en:incidence of 1 in 250,000 births
    n1=anomalie congénitale | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=429
  2. en:congenital abnormality --- r_associated #0: 428 --> en:incidence of 1 in 250,000 births
    n1=en:congenital abnormality | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=428
  3. malformation congénitale --- r_associated #0: 356 --> en:incidence of 1 in 250,000 births
    n1=malformation congénitale | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=356
  4. en:congenital anomaly --- r_associated #0: 355 --> en:incidence of 1 in 250,000 births
    n1=en:congenital anomaly | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=355
  5. en:congenital defect --- r_associated #0: 310 --> en:incidence of 1 in 250,000 births
    n1=en:congenital defect | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=310
  6. déformation congénitale --- r_associated #0: 286 --> en:incidence of 1 in 250,000 births
    n1=déformation congénitale | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=286
  7. déficience congénitale --- r_associated #0: 275 --> en:incidence of 1 in 250,000 births
    n1=déficience congénitale | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=275
  8. septicémie du nouveau-né --- r_associated #0: 226 --> en:incidence of 1 in 250,000 births
    n1=septicémie du nouveau-né | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=226
  9. septicémie néonatale --- r_associated #0: 225 --> en:incidence of 1 in 250,000 births
    n1=septicémie néonatale | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=225
  10. en:neonatal sepsis --- r_associated #0: 214 --> en:incidence of 1 in 250,000 births
    n1=en:neonatal sepsis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=214
  11. maladie congénitale --- r_associated #0: 202 --> en:incidence of 1 in 250,000 births
    n1=maladie congénitale | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=202
  12. difformité congénitale --- r_associated #0: 195 --> en:incidence of 1 in 250,000 births
    n1=difformité congénitale | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=195
  13. pathologie congénitale --- r_associated #0: 195 --> en:incidence of 1 in 250,000 births
    n1=pathologie congénitale | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=195
  14. mort du nouveau-né --- r_associated #0: 188 --> en:incidence of 1 in 250,000 births
    n1=mort du nouveau-né | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=188
  15. mort néonatale --- r_associated #0: 184 --> en:incidence of 1 in 250,000 births
    n1=mort néonatale | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=184
  16. en:neonatal death --- r_associated #0: 180 --> en:incidence of 1 in 250,000 births
    n1=en:neonatal death | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=180
  17. en:arthralgia --- r_associated #0: 154 --> en:incidence of 1 in 250,000 births
    n1=en:arthralgia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=154
  18. algie articulaire --- r_associated #0: 150 --> en:incidence of 1 in 250,000 births
    n1=algie articulaire | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=150
  19. douleur dans une articulation --- r_associated #0: 150 --> en:incidence of 1 in 250,000 births
    n1=douleur dans une articulation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=150
  20. arthralgie --- r_associated #0: 145 --> en:incidence of 1 in 250,000 births
    n1=arthralgie | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=145
  21. douleur articulaire --- r_associated #0: 145 --> en:incidence of 1 in 250,000 births
    n1=douleur articulaire | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=145
  22. en:congenital malformation --- r_associated #0: 130 --> en:incidence of 1 in 250,000 births
    n1=en:congenital malformation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=130
  23. en:birth defect --- r_associated #0: 120 --> en:incidence of 1 in 250,000 births
    n1=en:birth defect | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=120
  24. polyhydramnios --- r_associated #0: 96 --> en:incidence of 1 in 250,000 births
    n1=polyhydramnios | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=96
  25. en:polyhydramnios --- r_associated #0: 95 --> en:incidence of 1 in 250,000 births
    n1=en:polyhydramnios | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=95
  26. en:joint pain --- r_associated #0: 90 --> en:incidence of 1 in 250,000 births
    n1=en:joint pain | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=90
  27. tare congénitale --- r_associated #0: 80 --> en:incidence of 1 in 250,000 births
    n1=tare congénitale | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=80
  28. en:broad-based gait --- r_associated #0: 61 --> en:incidence of 1 in 250,000 births
    n1=en:broad-based gait | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=61
  29. élargissement du polygone de sustentation --- r_associated #0: 60 --> en:incidence of 1 in 250,000 births
    n1=élargissement du polygone de sustentation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=60
  30. en:wide-based gait --- r_associated #0: 55 --> en:incidence of 1 in 250,000 births
    n1=en:wide-based gait | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=55
  31. vice de conformation --- r_associated #0: 55 --> en:incidence of 1 in 250,000 births
    n1=vice de conformation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=55
  32. en:physical defect --- r_associated #0: 54 --> en:incidence of 1 in 250,000 births
    n1=en:physical defect | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=54
  33. anomalie du développement --- r_associated #0: 48 --> en:incidence of 1 in 250,000 births
    n1=anomalie du développement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=48
  34. en:teratosis --- r_associated #0: 47 --> en:incidence of 1 in 250,000 births
    n1=en:teratosis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=47
  35. rétinite pigmentaire d'apparition tardive --- r_associated #0: 47 --> en:incidence of 1 in 250,000 births
    n1=rétinite pigmentaire d'apparition tardive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=47
  36. létal --- r_associated #0: 45 --> en:incidence of 1 in 250,000 births
    n1=létal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=45
  37. en:late-adult onset --- r_associated #0: 44 --> en:incidence of 1 in 250,000 births
    n1=en:late-adult onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=44
  38. en:major physical defect --- r_associated #0: 44 --> en:incidence of 1 in 250,000 births
    n1=en:major physical defect | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=44
  39. en:increased risk of myeloproliferative disorders in those with somatic mutations --- r_associated #0: 43 --> en:incidence of 1 in 250,000 births
    n1=en:increased risk of myeloproliferative disorders in those with somatic mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=43
  40. en:may be fatal in infancy --- r_associated #0: 43 --> en:incidence of 1 in 250,000 births
    n1=en:may be fatal in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=43
  41. en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy --- r_associated #0: 43 --> en:incidence of 1 in 250,000 births
    n1=en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=43
  42. en:onset in first decade after normal early development --- r_associated #0: 43 --> en:incidence of 1 in 250,000 births
    n1=en:onset in first decade after normal early development | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=43
  43. en:age of onset varies ranging from 3 weeks to 22 years --- r_associated #0: 42 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset varies ranging from 3 weeks to 22 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=42
  44. en:classic severe form shows onset at 2 to 3 months of age --- r_associated #0: 42 --> en:incidence of 1 in 250,000 births
    n1=en:classic severe form shows onset at 2 to 3 months of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=42
  45. en:hearing loss progresses to profound deafness --- r_associated #0: 42 --> en:incidence of 1 in 250,000 births
    n1=en:hearing loss progresses to profound deafness | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=42
  46. en:lethal --- r_associated #0: 42 --> en:incidence of 1 in 250,000 births
    n1=en:lethal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=42
  47. en:stokes-adams syndrome --- r_associated #0: 42 --> en:incidence of 1 in 250,000 births
    n1=en:stokes-adams syndrome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=42
  48. en:early death in males --- r_associated #0: 41 --> en:incidence of 1 in 250,000 births
    n1=en:early death in males | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=41
  49. en:incidence of 1 in 50,000 to 1 in 100,000 --- r_associated #0: 41 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 50,000 to 1 in 100,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=41
  50. en:sexual infantilism --- r_associated #0: 41 --> en:incidence of 1 in 250,000 births
    n1=en:sexual infantilism | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=41
  51. en:affected individuals may have more than 1 cardiac structural defect, or none at all --- r_associated #0: 40 --> en:incidence of 1 in 250,000 births
    n1=en:affected individuals may have more than 1 cardiac structural defect, or none at all | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=40
  52. en:extrapyramidal signs show a favorable response to levodopa --- r_associated #0: 40 --> en:incidence of 1 in 250,000 births
    n1=en:extrapyramidal signs show a favorable response to levodopa | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=40
  53. en:juvenile form has onset between 4 and 19 years --- r_associated #0: 40 --> en:incidence of 1 in 250,000 births
    n1=en:juvenile form has onset between 4 and 19 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=40
  54. en:late-adult onset has been reported --- r_associated #0: 40 --> en:incidence of 1 in 250,000 births
    n1=en:late-adult onset has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=40
  55. en:mean age at onset of cerebellar ataxia is 52.8 years --- r_associated #0: 40 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset of cerebellar ataxia is 52.8 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=40
  56. en:mean age of onset 20.6 years --- r_associated #0: 40 --> en:incidence of 1 in 250,000 births
    n1=en:mean age of onset 20.6 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=40
  57. en:Stokes-Adams syndrome --- r_associated #0: 39 --> en:incidence of 1 in 250,000 births
    n1=en:Stokes-Adams syndrome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=39
  58. en:age at onset 14 to 44 years --- r_associated #0: 39 --> en:incidence of 1 in 250,000 births
    n1=en:age at onset 14 to 44 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=39
  59. en:child often can sit unsupported but never ambulates --- r_associated #0: 39 --> en:incidence of 1 in 250,000 births
    n1=en:child often can sit unsupported but never ambulates | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=39
  60. en:levodopa-induced dyskinesias --- r_associated #0: 39 --> en:incidence of 1 in 250,000 births
    n1=en:levodopa-induced dyskinesias | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=39
  61. en:majority of cases are sporadic, often in tall, thin men --- r_associated #0: 39 --> en:incidence of 1 in 250,000 births
    n1=en:majority of cases are sporadic, often in tall, thin men | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=39
  62. en:marked clinical variability within families --- r_associated #0: 39 --> en:incidence of 1 in 250,000 births
    n1=en:marked clinical variability within families | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=39
  63. en:one patient reported (last curated november 2012) --- r_associated #0: 39 --> en:incidence of 1 in 250,000 births
    n1=en:one patient reported (last curated november 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=39
  64. en:based on one sib pair each in their seventies --- r_associated #0: 38 --> en:incidence of 1 in 250,000 births
    n1=en:based on one sib pair each in their seventies | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=38
  65. en:based on report of 2 sibs in 2008 --- r_associated #0: 38 --> en:incidence of 1 in 250,000 births
    n1=en:based on report of 2 sibs in 2008 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=38
  66. en:family a had a severe multisystem disorder resulting in death before age 2 years --- r_associated #0: 38 --> en:incidence of 1 in 250,000 births
    n1=en:family a had a severe multisystem disorder resulting in death before age 2 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=38
  67. en:lesions increase in size and number with age --- r_associated #0: 38 --> en:incidence of 1 in 250,000 births
    n1=en:lesions increase in size and number with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=38
  68. en:onset of symptoms in early childhood in most patients --- r_associated #0: 38 --> en:incidence of 1 in 250,000 births
    n1=en:onset of symptoms in early childhood in most patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=38
  69. 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: 38 --> en:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=38
  70. en:retinitis pigmentosa --- r_associated #0: 38 --> en:incidence of 1 in 250,000 births
    n1=en:retinitis pigmentosa | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=38
  71. en:some patients have resolution of symptoms in first year of life --- r_associated #0: 38 --> en:incidence of 1 in 250,000 births
    n1=en:some patients have resolution of symptoms in first year of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=38
  72. en:caused by somatic mutations --- r_associated #0: 37 --> en:incidence of 1 in 250,000 births
    n1=en:caused by somatic mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=37
  73. en:death often in the teenage years --- r_associated #0: 37 --> en:incidence of 1 in 250,000 births
    n1=en:death often in the teenage years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=37
  74. en:heterozygous mutation carriers may have late-onset of mild symptoms --- r_associated #0: 37 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygous mutation carriers may have late-onset of mild symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=37
  75. en:may be asymptomatic --- r_associated #0: 37 --> en:incidence of 1 in 250,000 births
    n1=en:may be asymptomatic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=37
  76. en:one lebanese family has been reported --- r_associated #0: 37 --> en:incidence of 1 in 250,000 births
    n1=en:one lebanese family has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=37
  77. en:progressive clinical course with onset in childhood --- r_associated #0: 37 --> en:incidence of 1 in 250,000 births
    n1=en:progressive clinical course with onset in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=37
  78. en:six patients have been reported (as of october 2011) --- r_associated #0: 37 --> en:incidence of 1 in 250,000 births
    n1=en:six patients have been reported (as of october 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=37
  79. en:skeletal and facial features are variable --- r_associated #0: 37 --> en:incidence of 1 in 250,000 births
    n1=en:skeletal and facial features are variable | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=37
  80. en:syncope --- r_associated #0: 37 --> en:incidence of 1 in 250,000 births
    n1=en:syncope | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=37
  81. en:anemia is responsive to corticosteroid treatment --- r_associated #0: 36 --> en:incidence of 1 in 250,000 births
    n1=en:anemia is responsive to corticosteroid treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=36
  82. en:distinct from pseudopili annulati (613241) --- r_associated #0: 36 --> en:incidence of 1 in 250,000 births
    n1=en:distinct from pseudopili annulati (613241) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=36
  83. en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol --- r_associated #0: 36 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=36
  84. en:major fluid shifts may occur in severe cases --- r_associated #0: 36 --> en:incidence of 1 in 250,000 births
    n1=en:major fluid shifts may occur in severe cases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=36
  85. en:may be precipitated by minor illness (e.g., viral infection, fever) --- r_associated #0: 36 --> en:incidence of 1 in 250,000 births
    n1=en:may be precipitated by minor illness (e.g., viral infection, fever) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=36
  86. en:median onset of neurologic symptoms is 13 years (range 5 to 28) --- r_associated #0: 36 --> en:incidence of 1 in 250,000 births
    n1=en:median onset of neurologic symptoms is 13 years (range 5 to 28) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=36
  87. en:most patients become wheelchair-bound in the second or third decades --- r_associated #0: 36 --> en:incidence of 1 in 250,000 births
    n1=en:most patients become wheelchair-bound in the second or third decades | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=36
  88. en:precipitated by fever --- r_associated #0: 36 --> en:incidence of 1 in 250,000 births
    n1=en:precipitated by fever | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=36
  89. en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia --- r_associated #0: 36 --> en:incidence of 1 in 250,000 births
    n1=en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=36
  90. en:prevalent among the amish --- r_associated #0: 36 --> en:incidence of 1 in 250,000 births
    n1=en:prevalent among the amish | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=36
  91. en:some patients may show a favorable response to oral coenzyme q10 supplementation --- r_associated #0: 36 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may show a favorable response to oral coenzyme q10 supplementation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=36
  92. en:subtype 3a comprises myoclonus and dementia --- r_associated #0: 36 --> en:incidence of 1 in 250,000 births
    n1=en:subtype 3a comprises myoclonus and dementia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=36
  93. en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014) --- r_associated #0: 36 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=36
  94. en:variable age of onset (range 4 months to 45 years) --- r_associated #0: 36 --> en:incidence of 1 in 250,000 births
    n1=en:variable age of onset (range 4 months to 45 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=36
  95. en:variable expression --- r_associated #0: 36 --> en:incidence of 1 in 250,000 births
    n1=en:variable expression | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=36
  96. en:50% of cases represent new mutations associated with advanced paternal age --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:50% of cases represent new mutations associated with advanced paternal age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  97. en:adult onset from second to seventh decade --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset from second to seventh decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  98. en:age of onset of distal lower limb weakness 8-16 years --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset of distal lower limb weakness 8-16 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  99. en:all features are unilateral --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:all features are unilateral | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  100. en:average onset 6-10 months (range 3-24) --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:average onset 6-10 months (range 3-24) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  101. en:based on one large dutch family (last curated august 2015) --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:based on one large dutch family (last curated august 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  102. en:both autosomal dominant and autosomal recessive inheritance has been described --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:both autosomal dominant and autosomal recessive inheritance has been described | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  103. en:boys are more often affected than girls (3:2) --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:boys are more often affected than girls (3:2) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  104. en:can also be caused by contiguous gene deletion on chromosome 22q11.2 --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:can also be caused by contiguous gene deletion on chromosome 22q11.2 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  105. en:carrier females may have mild intellectual disability --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:carrier females may have mild intellectual disability | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  106. en:clinical presentation varies from asymptomatic to fulminant course --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:clinical presentation varies from asymptomatic to fulminant course | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  107. en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  108. en:death in early childhood may occur --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:death in early childhood may occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  109. en:death in infancy in 2 patients --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:death in infancy in 2 patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  110. en:death usually in childhood --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:death usually in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  111. en:deposits may recur in graft after corneal transplantation --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:deposits may recur in graft after corneal transplantation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  112. en:diagnosis within the first 3 months of life --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:diagnosis within the first 3 months of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  113. en:discordant phenotype among monozygotic twins has been reported --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:discordant phenotype among monozygotic twins has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  114. en:early death occurs in affected infants (days to months after disease onset) --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:early death occurs in affected infants (days to months after disease onset) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  115. en:end-stage renal failure may occur --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:end-stage renal failure may occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  116. en:excessive postsurgical blood loss --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:excessive postsurgical blood loss | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  117. en:excessive skin picking of sores --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:excessive skin picking of sores | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  118. en:facial dysmorphic features are mild --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:facial dysmorphic features are mild | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  119. en:facial palsy often transient in infancy --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:facial palsy often transient in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  120. en:female carriers may be mildly affected --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:female carriers may be mildly affected | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  121. en:first fracture in early childhood --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:first fracture in early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  122. en:fishy body odor --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:fishy body odor | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  123. en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) --- r_associated #0: 35 --> 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
  124. en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  125. en:four unrelated families have been reported (last curated september 2015) --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:four unrelated families have been reported (last curated september 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  126. en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes) --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  127. en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures) --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  128. en:hepatic failure develops in first months of life --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:hepatic failure develops in first months of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  129. en:high mortality in infancy and early childhood (in some patients) --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:high mortality in infancy and early childhood (in some patients) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  130. en:highly variable age at onset (range 9 to 69 years) --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:highly variable age at onset (range 9 to 69 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  131. en:highly variable clinical phenotype --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:highly variable clinical phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  132. en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  133. en:hypersensitivity to ionizing radiation --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:hypersensitivity to ionizing radiation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  134. en:icelandic families --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:icelandic families | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  135. en:incidence of 1 in 120,000 live births --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 120,000 live births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  136. en:incidence of 1 in 3,500 boys --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 3,500 boys | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  137. en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  138. en:incomplete penetrance in some families --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:incomplete penetrance in some families | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  139. en:interfamilial and intrafamilial clinical heterogeneity --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:interfamilial and intrafamilial clinical heterogeneity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  140. en:internal organ rupture may occur --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:internal organ rupture may occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  141. en:intracellular accumulation of material can occur in neuronal and nonneuronal cells --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:intracellular accumulation of material can occur in neuronal and nonneuronal cells | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  142. en:late-onset, slowly progressing form of retinitis pigmentosa --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:late-onset, slowly progressing form of retinitis pigmentosa | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  143. en:later onset (late childhood to young adult) has been reported --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:later onset (late childhood to young adult) has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  144. en:later onset in females --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:later onset in females | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  145. en:later onset may occur --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:later onset may occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  146. en:later onset of hearing loss in some patients --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:later onset of hearing loss in some patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  147. en:less than 20% have onset at 18 years of age or less (dominant and recessive) --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:less than 20% have onset at 18 years of age or less (dominant and recessive) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  148. en:lethal in males --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:lethal in males | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  149. en:limb malformations are variable --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:limb malformations are variable | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  150. en:liver size returns to normal after 3 months to 3 years --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:liver size returns to normal after 3 months to 3 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  151. en:loss of independent ambulation (in 2 of 3 patients) --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:loss of independent ambulation (in 2 of 3 patients) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  152. en:lower limb involvement occurs before upper limb involvement --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:lower limb involvement occurs before upper limb involvement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  153. en:madelung deformity more frequent and more severe in females --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:madelung deformity more frequent and more severe in females | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  154. en:major cause of death is heart failure --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:major cause of death is heart failure | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  155. en:majority of cases sporadic --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:majority of cases sporadic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  156. en:majority of children die before age 2 --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:majority of children die before age 2 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  157. en:males tend to have earlier onset than females --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:males tend to have earlier onset than females | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  158. en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  159. en:many cases are asymptomatic --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:many cases are asymptomatic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  160. en:many cases due to de novo mutation --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:many cases due to de novo mutation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  161. en:marked heterogeneity --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:marked heterogeneity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  162. en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  163. en:may not be clinically manifest until middle life --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:may not be clinically manifest until middle life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  164. en:mean age at onset is 13 years (range 6 to 43) --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset is 13 years (range 6 to 43) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  165. en:mean age of diagnosis of renal cell carcinoma is 46 years --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:mean age of diagnosis of renal cell carcinoma is 46 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  166. en:onset in first decade (as early as infancy in some) --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:onset in first decade (as early as infancy in some) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  167. en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  168. en:phenotypic variation (may affect language expression, reception, and/or articulation) --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic variation (may affect language expression, reception, and/or articulation) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  169. en:prevalence estimated at 1 in 50,000 --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence estimated at 1 in 50,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  170. en:relatively mild phenotype --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:relatively mild phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  171. en:seizures remit spontaneously by age 5 years --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:seizures remit spontaneously by age 5 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  172. en:some patients may not present until adulthood --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may not present until adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  173. en:some patients show a favorable response to sulfonylurea treatment --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:some patients show a favorable response to sulfonylurea treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  174. en:variable severity of clinical and radiologic manifestations --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:variable severity of clinical and radiologic manifestations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  175. en:virtually all patients with this condition are female --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:virtually all patients with this condition are female | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  176. en:weakness during pregnancy in some affected females has been reported --- r_associated #0: 35 --> en:incidence of 1 in 250,000 births
    n1=en:weakness during pregnancy in some affected females has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35
  177. en:adrenal insufficiency usually develops later (first decade) --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:adrenal insufficiency usually develops later (first decade) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  178. en:affected individuals have a relatively mild ichthyosis phenotype --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:affected individuals have a relatively mild ichthyosis phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  179. en:age at onset from 3 to 51 years (mean 19.2 years) --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:age at onset from 3 to 51 years (mean 19.2 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  180. en:age of onset between 5 and 10 years of age --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset between 5 and 10 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  181. en:allelic disorder to early-onset sarcoidosis (609464) --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to early-onset sarcoidosis (609464) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  182. en:allelic to hydropic and prenatally lethal chondrodystrophy (215140) --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to hydropic and prenatally lethal chondrodystrophy (215140) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  183. en:associated with iron deficiency anemia --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:associated with iron deficiency anemia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  184. en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  185. en:autosomal recessive disorder tends to be more severe --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal recessive disorder tends to be more severe | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  186. en:average onset of seizures 6 months (range 3-12) --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:average onset of seizures 6 months (range 3-12) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  187. en:caused by inheritance of the mutation on the paternal allele (imprinting) --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:caused by inheritance of the mutation on the paternal allele (imprinting) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  188. en:coloboma is associated with larger microdeletion (490kb) of 11q13 --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:coloboma is associated with larger microdeletion (490kb) of 11q13 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  189. en:cutaneous symptoms induced by cold exposure or cooling --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:cutaneous symptoms induced by cold exposure or cooling | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  190. en:deafness tends to occur before other neurologic signs, except in patients with very early onset --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:deafness tends to occur before other neurologic signs, except in patients with very early onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  191. en:death from pneumonia --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:death from pneumonia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  192. en:death in infancy secondary to respiratory insufficiency/pneumonia --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:death in infancy secondary to respiratory insufficiency/pneumonia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  193. en:death in majority of infants soon after birth --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:death in majority of infants soon after birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  194. en:death in perinatal period --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:death in perinatal period | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  195. en:death in utero or in early infancy is common --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:death in utero or in early infancy is common | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  196. en:death secondary to respiratory infection or failure before age 2 years --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:death secondary to respiratory infection or failure before age 2 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  197. en:death usually in infancy due to respiratory failure --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:death usually in infancy due to respiratory failure | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  198. en:drug-induced dyskinesias occur in a subset of patients --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:drug-induced dyskinesias occur in a subset of patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  199. en:dwarfism not detectable at birth --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:dwarfism not detectable at birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  200. en:dysmorphic facial features reported in 1 family --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:dysmorphic facial features reported in 1 family | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  201. en:episodes last from several hours to days --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:episodes last from several hours to days | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  202. en:favorable response to 3,4-diaminopyridine --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to 3,4-diaminopyridine | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  203. en:favorable response to ephedrine treatment --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to ephedrine treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  204. en:few familial (parent offspring) cases reported --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:few familial (parent offspring) cases reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  205. en:foot deformities are present in infancy or childhood --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:foot deformities are present in infancy or childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  206. en:four patients from 3 families have been reported (last curated march 2016) --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:four patients from 3 families have been reported (last curated march 2016) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  207. en:genetic heterogeneity (see 161800) --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see 161800) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  208. en:genetic heterogeneity (see 609192) --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see 609192) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  209. en:gonadal and somatic mosaicism reported in parent --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:gonadal and somatic mosaicism reported in parent | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  210. en:hair regrowth may occur later in life --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:hair regrowth may occur later in life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  211. en:hairy elbows become apparent in infancy and regress during adolescence --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:hairy elbows become apparent in infancy and regress during adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  212. en:heterozygotes may exhibit syndromic manifestations --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygotes may exhibit syndromic manifestations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  213. en:highly variable phenotype with respect to facial dysmorphism and neurologic features --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:highly variable phenotype with respect to facial dysmorphism and neurologic features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  214. en:highly variable phenotype, even within families --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:highly variable phenotype, even within families | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  215. en:highly variable phenotype, some adults may be asymptomatic --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:highly variable phenotype, some adults may be asymptomatic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  216. en:highly variable severity and features --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:highly variable severity and features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  217. en:incidence of 1 in 100,000 births --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 100,000 births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  218. en:incidence of 1 in 100,000 to 125,000 at birth --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 100,000 to 125,000 at birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  219. en:incidence of 1 in 25,000 livebirths --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 25,000 livebirths | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  220. en:incidence of 1 in 39,000 --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 39,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  221. en:incidence worldwide of 1 in 30,000 to 50,000 --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:incidence worldwide of 1 in 30,000 to 50,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  222. en:incomplete penetrance (range 13% to 77% by 50 years of age) --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:incomplete penetrance (range 13% to 77% by 50 years of age) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  223. en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan) --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  224. en:increased male to female ratio (7.5:1) --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:increased male to female ratio (7.5:1) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  225. en:increased sensitivity to valproic acid toxicity --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:increased sensitivity to valproic acid toxicity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  226. en:initially normal rod responses may become significantly reduced at older age --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:initially normal rod responses may become significantly reduced at older age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  227. en:intermediate expression in females --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:intermediate expression in females | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  228. en:late adult onset (after age 55 years) --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:late adult onset (after age 55 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  229. en:leakage of fluid ('gusher') if the stapes is disturbed --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:leakage of fluid ('gusher') if the stapes is disturbed | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  230. en:lesions provoked by friction, sun exposure, heat, and injury --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:lesions provoked by friction, sun exposure, heat, and injury | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  231. en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20% --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20% | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  232. en:majority of cases (95%) are sporadic --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:majority of cases (95%) are sporadic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  233. en:majority of cases are male --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:majority of cases are male | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  234. en:male patients have more severe disease than female patients --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:male patients have more severe disease than female patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  235. en:males carry mutations in the somatic mosaic state --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:males carry mutations in the somatic mosaic state | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  236. en:may occur in adults (also in pregnancy) --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:may occur in adults (also in pregnancy) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  237. en:may result in death in neonatal period or early childhood --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:may result in death in neonatal period or early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  238. en:may result in sudden death --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:may result in sudden death | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  239. en:mean age at onset 24 years (range 14 to 33 years) --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset 24 years (range 14 to 33 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  240. en:mean age at onset 32 years --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset 32 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  241. en:mean age at onset 66.8 years (range 47-77) --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset 66.8 years (range 47-77) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  242. en:mean age at onset of migraines is 42 years --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset of migraines is 42 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  243. en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  244. en:metabolic encephalomyopathic crises often triggered by infection --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:metabolic encephalomyopathic crises often triggered by infection | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  245. en:no situs inversus --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:no situs inversus | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  246. en:precipitation by pregnancy --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:precipitation by pregnancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  247. en:pyogenic arthritis, pyoderma gangrenosum and acne --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:pyogenic arthritis, pyoderma gangrenosum and acne | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  248. en:short survival (less than 10 years after onset) --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:short survival (less than 10 years after onset) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  249. en:small placenta --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:small placenta | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  250. en:three unrelated families have been reported (last curated october 2015) --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:three unrelated families have been reported (last curated october 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  251. en:twenty-five percent of affected babies are stillborn --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:twenty-five percent of affected babies are stillborn | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  252. en:two sibs from a consanguineous syrian family have been reported (last curated july 2015) --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:two sibs from a consanguineous syrian family have been reported (last curated july 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  253. en:variable age of onset (7-59 years) --- r_associated #0: 34 --> en:incidence of 1 in 250,000 births
    n1=en:variable age of onset (7-59 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=34
  254. Maladie congénitale --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=Maladie congénitale | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  255. en:adult onset --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  256. en:approximately 40% of cases are inherited or new germline mutations --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:approximately 40% of cases are inherited or new germline mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  257. en:associated with advanced paternal age --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:associated with advanced paternal age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  258. en:average age at diagnosis 17.8 years (range 2-35 years) --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:average age at diagnosis 17.8 years (range 2-35 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  259. en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015) --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  260. en:bleeding is usually delayed-onset after challenge --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:bleeding is usually delayed-onset after challenge | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  261. en:congenital onset --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:congenital onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  262. en:death before age 40 --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:death before age 40 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  263. en:disease shows slow progression --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:disease shows slow progression | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  264. en:early adult onset has been reported --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:early adult onset has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  265. en:early death may occur --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:early death may occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  266. en:early death often occurs from cardiac failure or infection --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:early death often occurs from cardiac failure or infection | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  267. en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  268. en:fatal in first few months of life in most cases --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:fatal in first few months of life in most cases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  269. en:female carriers may be affected --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:female carriers may be affected | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  270. en:four unrelated families have been reported (last curated august 2015) --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:four unrelated families have been reported (last curated august 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  271. en:genetic heterogeneity (see 116800 for summary) --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see 116800 for summary) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  272. en:genetic heterogeneity (see mcc1 deficiency 210200) --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see mcc1 deficiency 210200) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  273. en:good response to steroid treatment --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:good response to steroid treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  274. en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  275. en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  276. en:high frequencies affected before low frequencies --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:high frequencies affected before low frequencies | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  277. en:highly variable expression --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:highly variable expression | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  278. en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  279. en:hip joint replacement often necessary --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:hip joint replacement often necessary | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  280. en:hyperlipidemia may be partially responsive to fat-restricted diet --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:hyperlipidemia may be partially responsive to fat-restricted diet | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  281. en:improvement with age --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:improvement with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  282. en:in severe attacks, hemiplegia or coma may last days to weeks --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:in severe attacks, hemiplegia or coma may last days to weeks | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  283. en:incidence 1 in 8,000 live births --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:incidence 1 in 8,000 live births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  284. en:incidence 1/100,000 - 1/200,000 live births --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:incidence 1/100,000 - 1/200,000 live births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  285. en:incidence of 1 in 300,000 --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 300,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  286. en:incomplete penetrance in carrier females --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:incomplete penetrance in carrier females | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  287. en:increased susceptibility to multiple carcinomas --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:increased susceptibility to multiple carcinomas | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  288. en:infants may have acute life-threatening crises --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:infants may have acute life-threatening crises | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  289. en:infants show normal size and appearance --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:infants show normal size and appearance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  290. en:inflammatory arthritis may develop in 30% of patients --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:inflammatory arthritis may develop in 30% of patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  291. en:inflammatory bowel disease may develop in childhood or adolescence --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:inflammatory bowel disease may develop in childhood or adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  292. en:insidious onset --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:insidious onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  293. en:intrafamilial variability in degree of hypotrichosis --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:intrafamilial variability in degree of hypotrichosis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  294. en:late infantile onset 6-24 months --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:late infantile onset 6-24 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  295. en:late-adult onset (usually after age 50 years) --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:late-adult onset (usually after age 50 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  296. en:later onset has been reported --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:later onset has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  297. en:later onset of neurologic features --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:later onset of neurologic features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  298. en:lesions continue to grow until epiphyseal plate closure --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:lesions continue to grow until epiphyseal plate closure | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  299. en:life-threatening infections --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:life-threatening infections | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  300. en:lipodystrophic appearance may be mild or not present --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:lipodystrophic appearance may be mild or not present | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  301. en:liver symptoms improve with age and disappear after puberty --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:liver symptoms improve with age and disappear after puberty | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  302. en:loss of independent ambulation in the second decade --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:loss of independent ambulation in the second decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  303. en:majority of cases have been sporadic --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:majority of cases have been sporadic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  304. en:male predominance of 3:1 to 5:1 --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:male predominance of 3:1 to 5:1 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  305. en:many features are present only in an untreated patient --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:many features are present only in an untreated patient | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  306. en:marked intrafamilial variability of clinical features --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:marked intrafamilial variability of clinical features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  307. en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years) --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  308. en:maternal oligohydramnios --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:maternal oligohydramnios | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  309. en:may regress --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:may regress | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  310. en:mean age at onset 35 years (range 20-60) --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset 35 years (range 20-60) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  311. en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood) --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  312. en:mean survival 5 months --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:mean survival 5 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  313. en:median age at onset 23 years --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:median age at onset 23 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  314. en:median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  315. en:median age of diagnosis is 28 years --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:median age of diagnosis is 28 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  316. en:median age of onset of nail dystrophy - 7 years (range 1-6 years) --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:median age of onset of nail dystrophy - 7 years (range 1-6 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  317. en:one patient has been reported (last curated august 2015) --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:one patient has been reported (last curated august 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  318. en:onset of lymphedema around puberty --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:onset of lymphedema around puberty | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  319. en:patients may die in infancy or childhood due to respiratory failure --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:patients may die in infancy or childhood due to respiratory failure | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  320. en:pigmentation not always butterfly-shaped --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:pigmentation not always butterfly-shaped | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  321. en:some patients may present with myopathic features --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may present with myopathic features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  322. en:tumor suppressor gene --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:tumor suppressor gene | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  323. en:two sibs each from unrelated saudi arabian families reported (last curated may 2014) --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:two sibs each from unrelated saudi arabian families reported (last curated may 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  324. en:two unrelated patients have been reported (last curated august 2015) --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients have been reported (last curated august 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  325. en:usually symptomatic in adulthood with history of weakness since infancy or childhood --- r_associated #0: 32 --> en:incidence of 1 in 250,000 births
    n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=32
  326. en:20% die before age one (usually secondary to renal or laryngeal defects) --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:20% die before age one (usually secondary to renal or laryngeal defects) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  327. en:about 20% of female mutation carriers may show mild muscle weakness --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:about 20% of female mutation carriers may show mild muscle weakness | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  328. en:adult onset of neurologic symptoms has been reported in 1 family --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset of neurologic symptoms has been reported in 1 family | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  329. en:all cases sporadic (18 males, 7 females) --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:all cases sporadic (18 males, 7 females) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  330. en:all reported mutations have occurred de novo --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:all reported mutations have occurred de novo | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  331. en:asymptomatic patients may show changes on sd-oct --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:asymptomatic patients may show changes on sd-oct | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  332. en:attacks more common in women --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:attacks more common in women | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  333. en:childhood onset --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:childhood onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  334. 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: 31 --> en:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  335. en:clinically 'silent' nystagmus evident on eye movement recording in carrier females --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:clinically 'silent' nystagmus evident on eye movement recording in carrier females | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  336. en:clonidine can alleviate hyperhidrosis --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:clonidine can alleviate hyperhidrosis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  337. en:death in fourth to fifth decade --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:death in fourth to fifth decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  338. en:death in third or fourth decades, usually due to respiratory infection --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:death in third or fourth decades, usually due to respiratory infection | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  339. en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%) --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  340. en:episode frequency is monthly to yearly, and decreases with age --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:episode frequency is monthly to yearly, and decreases with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  341. en:episodes brought on by fasting or infection --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:episodes brought on by fasting or infection | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  342. en:episodes tend to decrease with age --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:episodes tend to decrease with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  343. en:features are variable --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:features are variable | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  344. en:fracture frequency decreased post puberty --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:fracture frequency decreased post puberty | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  345. en:gait disturbance --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:gait disturbance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  346. en:glucocorticoid deficiency occurs in mid-childhood --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:glucocorticoid deficiency occurs in mid-childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  347. en:hearing loss is usually severe by age 20 years --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:hearing loss is usually severe by age 20 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  348. en:hearing loss ma be fluctuating or progressive --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:hearing loss ma be fluctuating or progressive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  349. en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  350. en:heterozygous female carriers may manifest symptoms --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygous female carriers may manifest symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  351. en:heterozygous females may exhibit variable degrees of enzyme deficiency --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygous females may exhibit variable degrees of enzyme deficiency | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  352. en:highly penetrant, but low morbidity --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:highly penetrant, but low morbidity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  353. en:highly variable frequency and duration of episodes --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:highly variable frequency and duration of episodes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  354. en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  355. en:hyperpigmented patches increased in size and number with age --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:hyperpigmented patches increased in size and number with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  356. en:incidence - 1/16,000 live births --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:incidence - 1/16,000 live births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  357. en:incidence 8/1,000 newborns --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:incidence 8/1,000 newborns | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  358. en:incidence of 1 in 10,000 to 1 in 20,000 --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 10,000 to 1 in 20,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  359. en:incomplete penetrance of optic atrophy --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:incomplete penetrance of optic atrophy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  360. en:increased aneuploidy in offspring --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:increased aneuploidy in offspring | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  361. en:increased risk of early death --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:increased risk of early death | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  362. en:infantile form has onset within first 6 months of life --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:infantile form has onset within first 6 months of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  363. en:infantile onset --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:infantile onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  364. en:infantile, late-infantile, juvenile, and adult onset have been reported --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:infantile, late-infantile, juvenile, and adult onset have been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  365. en:infections may precipitate ketotic episodes --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:infections may precipitate ketotic episodes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  366. en:inheritance pattern is unclear --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:inheritance pattern is unclear | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  367. en:l-dopa-induced dyskinesias --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:l-dopa-induced dyskinesias | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  368. en:loss of tumor suppressor gene --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:loss of tumor suppressor gene | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  369. en:males are most severely affected, but females can also be affected --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:males are most severely affected, but females can also be affected | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  370. en:males may be more affected than females --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:males may be more affected than females | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  371. en:marked phenotypic variability, even within an individual --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:marked phenotypic variability, even within an individual | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  372. en:may fade with age --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:may fade with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  373. en:may result in early death from severe diarrhea --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:may result in early death from severe diarrhea | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  374. en:mean age at onset 33 years (range 20-60) --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset 33 years (range 20-60) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  375. en:mean age of onset 30 years (range 25-42) --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:mean age of onset 30 years (range 25-42) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  376. en:median survival is > 50 years --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:median survival is > 50 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  377. en:medullary thyroid cancer is aggressive and can occur in childhood --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:medullary thyroid cancer is aggressive and can occur in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  378. en:mesomelia becomes more evident with age --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:mesomelia becomes more evident with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  379. en:multiple prenatal fractures --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:multiple prenatal fractures | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  380. en:no consistent dysmorphic facial phenotype --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:no consistent dysmorphic facial phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  381. en:no extraocular findings --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:no extraocular findings | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  382. en:one family and 2 unrelated patients have been reported (last curated december 2015) --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:one family and 2 unrelated patients have been reported (last curated december 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  383. en:onset of overgrowth in the first year of life (in most cases) --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:onset of overgrowth in the first year of life (in most cases) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  384. en:onset of visual dysfunction in early childhood --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:onset of visual dysfunction in early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  385. en:precipitated by fatigue or alcohol --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:precipitated by fatigue or alcohol | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  386. en:presence of additional features is variable --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:presence of additional features is variable | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  387. en:sudden death within first days of life --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:sudden death within first days of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  388. en:three unrelated patients have been reported (last curated december 2015) --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:three unrelated patients have been reported (last curated december 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  389. en:two sibs have been reported (last curated november 2015) --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:two sibs have been reported (last curated november 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  390. en:two unrelated families have been reported (last curated june 2015) --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated families have been reported (last curated june 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  391. en:variable features present --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=en:variable features present | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  392. hydramnios --- r_associated #0: 31 --> en:incidence of 1 in 250,000 births
    n1=hydramnios | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=31
  393. en:(3) adult nonnephropathic (219750) --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:(3) adult nonnephropathic (219750) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  394. en:adult onset (20 to 50 years) --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (20 to 50 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  395. en:adult onset has been reported --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  396. en:age of onset/diagnosis 12-35 years --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset/diagnosis 12-35 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  397. en:allelic disorder to potassium-aggravated myotonia (608390) --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to potassium-aggravated myotonia (608390) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  398. en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410) --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  399. en:approximately 70-80% of cases are de novo and sporadic --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:approximately 70-80% of cases are de novo and sporadic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  400. en:associated with smoking --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:associated with smoking | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  401. en:based on report of 2 individuals (last curated november 2013) --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:based on report of 2 individuals (last curated november 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  402. en:based on report of 4 patients from 1 family (last curated july 2015) --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:based on report of 4 patients from 1 family (last curated july 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  403. en:blisters are precipitated by minor skin trauma --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:blisters are precipitated by minor skin trauma | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  404. en:carrier females show no phenotypic abnormalities, but may have learning difficulties --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:carrier females show no phenotypic abnormalities, but may have learning difficulties | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  405. en:color vision defects may not be part of the phenotype --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:color vision defects may not be part of the phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  406. en:condition is experienced by patients as harmless and is often discovered incidentally --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:condition is experienced by patients as harmless and is often discovered incidentally | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  407. en:death due to respiratory insufficiency within minutes to hours after birth --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:death due to respiratory insufficiency within minutes to hours after birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  408. en:death may occur in infancy --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:death may occur in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  409. en:developmental anomaly --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:developmental anomaly | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  410. en:developmental fault --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:developmental fault | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  411. en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects) --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  412. en:earlier onset is associated with a more severe disorder --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:earlier onset is associated with a more severe disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  413. en:early death due to sepsis --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:early death due to sepsis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  414. en:estimated frequence 1/3000 to 1/5000 --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:estimated frequence 1/3000 to 1/5000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  415. en:favorable response to ursodeoxycholic acid treatment --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to ursodeoxycholic acid treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  416. en:fractures and dental caries and premature secondary tooth loss occur in adulthood --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:fractures and dental caries and premature secondary tooth loss occur in adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  417. en:frequency of infections decreases after 3 years of age --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:frequency of infections decreases after 3 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  418. en:hands clenched at birth but loosen in infancy --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:hands clenched at birth but loosen in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  419. en:hearing loss occurs in late childhood --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:hearing loss occurs in late childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  420. en:hepatomegaly improves with age and disappears around puberty --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:hepatomegaly improves with age and disappears around puberty | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  421. en:high frequency hearing loss progresses to include all frequencies --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:high frequency hearing loss progresses to include all frequencies | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  422. en:high frequency of levodopa-induced dyskinesias --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:high frequency of levodopa-induced dyskinesias | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  423. en:high recurrence rate --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:high recurrence rate | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  424. en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  425. en:hypothyroidism is less severe in individuals with high dietary iodine intake --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:hypothyroidism is less severe in individuals with high dietary iodine intake | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  426. en:in general, men have more severe disease than women --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:in general, men have more severe disease than women | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  427. en:incidence ranges from 1 in 40,000 to 1 in 350,000 births --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:incidence ranges from 1 in 40,000 to 1 in 350,000 births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  428. en:increased recurrence risk with parental translocation --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:increased recurrence risk with parental translocation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  429. en:infantile form accounts for 90% of cases --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:infantile form accounts for 90% of cases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  430. en:infantile onset with hepatic involvement --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:infantile onset with hepatic involvement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  431. 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: 30 --> en:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  432. en:intrafamilial phenotypic variation may occur --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:intrafamilial phenotypic variation may occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  433. en:intrafamilial variability in severity of hypothyroidism --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:intrafamilial variability in severity of hypothyroidism | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  434. en:lack of treatment results in early death --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:lack of treatment results in early death | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  435. en:late-adult onset (fifth to sixth decade) --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:late-adult onset (fifth to sixth decade) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  436. en:later onset can also occur (up to age 17 years) --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:later onset can also occur (up to age 17 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  437. en:left side involvement more frequent than right side involvement --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:left side involvement more frequent than right side involvement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  438. en:likely allelic to sc phocomelia syndrome (269000) --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:likely allelic to sc phocomelia syndrome (269000) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  439. en:loss of ambulation --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:loss of ambulation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  440. en:majority of patients die in neonatal period secondary to respiratory insufficiency --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:majority of patients die in neonatal period secondary to respiratory insufficiency | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  441. en:male to female ratio is greater than 3:1 --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:male to female ratio is greater than 3:1 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  442. en:males are more severely affected --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:males are more severely affected | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  443. en:manifests in infancy (including neonatal lethal) or childhood --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:manifests in infancy (including neonatal lethal) or childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  444. en:marked intrafamilial and interfamilial variability --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:marked intrafamilial and interfamilial variability | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  445. en:may be lethal if untreated --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:may be lethal if untreated | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  446. en:mean age at onset 10.6 years --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset 10.6 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  447. en:mean age at onset 46.5 years (range 19-64) --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset 46.5 years (range 19-64) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  448. en:mean age at onset of proximal muscle weakness, 31 years --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset of proximal muscle weakness, 31 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  449. en:mean age of onset 16 to 19 years --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:mean age of onset 16 to 19 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  450. en:mean age of onset about 62 years (45-79 years) --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:mean age of onset about 62 years (45-79 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  451. en:median age of onset of pigmentation - 8 years (range 1-15 years) --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:median age of onset of pigmentation - 8 years (range 1-15 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  452. en:mild asymmetric regional disease (e.g. 180380.0029) --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:mild asymmetric regional disease (e.g. 180380.0029) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  453. en:miscellaneous --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:miscellaneous | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  454. en:onset of night blindness varies among patients from early childhood to mid thirties --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:onset of night blindness varies among patients from early childhood to mid thirties | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  455. en:onset usually in childhood or adolescence --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in childhood or adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  456. en:precipitated by general anesthesia --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:precipitated by general anesthesia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  457. en:prelingual onset --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:prelingual onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  458. en:recurrent episodes of liver failure during intercurrent infections --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:recurrent episodes of liver failure during intercurrent infections | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  459. en:slight male predominance (3:2) --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:slight male predominance (3:2) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  460. en:some patients may show normal early development before seizure onset --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may show normal early development before seizure onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  461. en:some patients never gain ambulation or become wheelchair-bound --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:some patients never gain ambulation or become wheelchair-bound | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  462. en:some patients show improvement during summer or with fever --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:some patients show improvement during summer or with fever | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  463. en:two families with confirmed adra2b mutations have been reported (last curated june 2015) --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:two families with confirmed adra2b mutations have been reported (last curated june 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  464. en:two unrelated families have been reported (last curated february 2016) --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  465. létale --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=létale | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  466. léthal --- r_associated #0: 30 --> en:incidence of 1 in 250,000 births
    n1=léthal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=30
  467. en:age at diagnosis 24 +/- 18 years for dominant disease --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:age at diagnosis 24 +/- 18 years for dominant disease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  468. en:approximately 50% of patients have situs inversus --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:approximately 50% of patients have situs inversus | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  469. en:death in childhood may occur due to end-stage renal disease --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:death in childhood may occur due to end-stage renal disease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  470. en:death often occurs in childhood --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:death often occurs in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  471. 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: 29 --> en:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  472. en:early death (in some patients) --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:early death (in some patients) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  473. en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  474. en:estimated incidence of 1-2 in 10,000 --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:estimated incidence of 1-2 in 10,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  475. en:evidence of systemic iron overload seen in 1 family --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:evidence of systemic iron overload seen in 1 family | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  476. en:eye involvement begins at birth, neurologic involvement begins later --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:eye involvement begins at birth, neurologic involvement begins later | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  477. en:fatal before age 2 years --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:fatal before age 2 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  478. en:fractures can occur in utero, during labor and delivery, or in newborn period --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:fractures can occur in utero, during labor and delivery, or in newborn period | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  479. en:full recovery after attacks --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:full recovery after attacks | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  480. en:great variation in extent of hypertrophy in mutation-positive individuals --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:great variation in extent of hypertrophy in mutation-positive individuals | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  481. en:hearing loss affects all frequencies --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:hearing loss affects all frequencies | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  482. en:heterozygotes are not affected --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygotes are not affected | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  483. en:heterozygotes exhibit blue sclerae and soft velvety skin --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygotes exhibit blue sclerae and soft velvety skin | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  484. en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  485. en:heterozygous females may have situs inversus or other midline defects --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygous females may have situs inversus or other midline defects | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  486. en:high pain threshold --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:high pain threshold | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  487. en:highly variable phenotype and severity --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:highly variable phenotype and severity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  488. en:hyperkeratosis often present at birth but may appear later --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:hyperkeratosis often present at birth but may appear later | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  489. en:in the absence of hydrops, death occurs within 3 months --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:in the absence of hydrops, death occurs within 3 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  490. en:incidence 1 in 30,000 male births --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:incidence 1 in 30,000 male births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  491. en:incidence 1-1.5/1,000 live births --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:incidence 1-1.5/1,000 live births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  492. en:incidence 5-50 per million (children) and 10-40 per million (adults) --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:incidence 5-50 per million (children) and 10-40 per million (adults) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  493. en:incomplete penetrance --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:incomplete penetrance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  494. en:increased risk of developing early-onset aggressive cancers --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:increased risk of developing early-onset aggressive cancers | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  495. en:initial development may appear normal --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:initial development may appear normal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  496. en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  497. en:intermittent exacerbations --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:intermittent exacerbations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  498. en:intrafamilial variability in number of missing teeth --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:intrafamilial variability in number of missing teeth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  499. en:joint symptoms begin in third or fourth decade --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:joint symptoms begin in third or fourth decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  500. en:later onset of optic atrophy (mean 19 years, range 5 to 50 years) --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:later onset of optic atrophy (mean 19 years, range 5 to 50 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  501. en:lesions apparent at birth --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:lesions apparent at birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  502. en:lethal in utero or perinatal lethal --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:lethal in utero or perinatal lethal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  503. en:majority are isolated cases --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:majority are isolated cases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  504. en:majority of patients have normal intelligence --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:majority of patients have normal intelligence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  505. en:many patients require cardiac pacemakers --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:many patients require cardiac pacemakers | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  506. en:may be lethal in the neonatal period --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:may be lethal in the neonatal period | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  507. en:may be triggered by minor head trauma --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:may be triggered by minor head trauma | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  508. en:mean age at diagnosis 8.8 years (range 0.2-23 years) --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at diagnosis 8.8 years (range 0.2-23 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  509. en:mean age at onset 15.2 years --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset 15.2 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  510. en:mean age at onset of dementia is 57 years --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset of dementia is 57 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  511. en:mean age of onset 35-40 years --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:mean age of onset 35-40 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  512. en:medial onset of end stage renal disease 13 years --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:medial onset of end stage renal disease 13 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  513. en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  514. en:onset in early infancy --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:onset in early infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  515. en:osteoglophonic, derived from greek meaning hollowed out --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:osteoglophonic, derived from greek meaning hollowed out | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  516. en:penetrance estimated to be 80% --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:penetrance estimated to be 80% | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  517. en:possible x-linked dominant inheritance --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:possible x-linked dominant inheritance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  518. en:recurrent bacterial infection --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:recurrent bacterial infection | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  519. en:retinal holes were present in an asymptomatic female carrier --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:retinal holes were present in an asymptomatic female carrier | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  520. en:single umbilical artery --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:single umbilical artery | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  521. en:some patients have onset in second decade of life --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:some patients have onset in second decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  522. en:some patients may lose independent ambulation --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may lose independent ambulation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  523. en:some patients with advanced loss of vision have normal eog --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:some patients with advanced loss of vision have normal eog | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  524. en:toe-walking gait --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:toe-walking gait | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  525. en:two unrelated families have been reported (last curated may 2013) --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated families have been reported (last curated may 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  526. en:two unrelated families have been reported (last curated october 2015) --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated families have been reported (last curated october 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  527. en:variable phenotype, particularly with regard to cortical malformations --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:variable phenotype, particularly with regard to cortical malformations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  528. en:visual impairment is present at birth and is progressive --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=en:visual impairment is present at birth and is progressive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  529. rétinite pigmentaire liée à la périphérine (pro219leu) --- r_associated #0: 29 --> en:incidence of 1 in 250,000 births
    n1=rétinite pigmentaire liée à la périphérine (pro219leu) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=29
  530. en:a milder form has also been reported --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:a milder form has also been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  531. en:adult onset (wide range of age) --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (wide range of age) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  532. en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  533. en:allelic to metaphyseal dysplasia without hypotrichosis (250460) --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to metaphyseal dysplasia without hypotrichosis (250460) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  534. en:approximately half of the mutations are de novo --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:approximately half of the mutations are de novo | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  535. en:associated with hemodialysis --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:associated with hemodialysis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  536. en:associated with increased frequency of autoimmune diseases --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:associated with increased frequency of autoimmune diseases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  537. en:autoimmune features are variable --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:autoimmune features are variable | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  538. en:blistering may worsen during the summer --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:blistering may worsen during the summer | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  539. en:chelation therapy can result in clinical improvement --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:chelation therapy can result in clinical improvement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  540. en:death due to rapidly progressive pulmonary fibrosis in infancy --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:death due to rapidly progressive pulmonary fibrosis in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  541. en:death in the first years of life --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:death in the first years of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  542. en:early death (usually by 3 years of age) --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:early death (usually by 3 years of age) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  543. en:estimated frequency 1/2000-1/4000 individuals --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:estimated frequency 1/2000-1/4000 individuals | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  544. en:four unrelated patients have been reported (last curated june 2014) --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:four unrelated patients have been reported (last curated june 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  545. en:fractures decrease after puberty but increase after menopause --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:fractures decrease after puberty but increase after menopause | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  546. en:gradual progression --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:gradual progression | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  547. en:highly variable frequency and severity of attacks --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:highly variable frequency and severity of attacks | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  548. en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del) --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  549. en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  550. en:incidence of 1 in 10,000 live births --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 10,000 live births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  551. en:incidence of 1 in 5,000 to 1 in 10,000 --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 5,000 to 1 in 10,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  552. en:incidence of 1 in 57,000 --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 57,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  553. en:incomplete, but high, penetrance --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:incomplete, but high, penetrance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  554. en:infants are stillborn or die shortly after birth --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:infants are stillborn or die shortly after birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  555. en:isolated finding --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:isolated finding | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  556. en:itch, pain, and body malodor often --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:itch, pain, and body malodor often | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  557. en:joint laxity decreases with age --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:joint laxity decreases with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  558. en:juvenile onset 4 years to puberty --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:juvenile onset 4 years to puberty | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  559. en:ketogenic diet may be effective --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:ketogenic diet may be effective | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  560. en:leg pain during childhood --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:leg pain during childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  561. en:length of attack, 3 to 7 days --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:length of attack, 3 to 7 days | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  562. en:lesions are present at birth or become apparent in infancy --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:lesions are present at birth or become apparent in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  563. en:liveborn often die within first week of life --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:liveborn often die within first week of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  564. en:liver disease may be the most predominant finding --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:liver disease may be the most predominant finding | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  565. en:lower limb weakness is presenting feature --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:lower limb weakness is presenting feature | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  566. en:majority of patients are stillborn or die before 5 months of age --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:majority of patients are stillborn or die before 5 months of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  567. en:male-to-female ratio, 1.8 to 1 --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:male-to-female ratio, 1.8 to 1 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  568. en:maternal imprinting --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:maternal imprinting | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  569. en:may be progressive --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:may be progressive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  570. en:may progress to other body regions after many years --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:may progress to other body regions after many years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  571. en:mean age at onset 22 years (range 7 to 50 years) --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset 22 years (range 7 to 50 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  572. en:mean age at onset 28 years --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset 28 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  573. en:mean age at onset 57-60 years --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset 57-60 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  574. en:mean age at onset of bone fractures, 24 years --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset of bone fractures, 24 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  575. en:mean age at termination 3 to 4 years --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at termination 3 to 4 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  576. en:mean age of onset 22 years (range 5-54) --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:mean age of onset 22 years (range 5-54) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  577. en:mean age of onset, 5 years --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:mean age of onset, 5 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  578. en:midline defects --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:midline defects | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  579. en:opportunistic infection --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:opportunistic infection | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  580. en:polyhydramnion --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:polyhydramnion | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  581. en:poor response to l-dopa --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:poor response to l-dopa | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  582. en:prevalence of true hypoprothrombinemia is 1 in 2 million --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of true hypoprothrombinemia is 1 in 2 million | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  583. en:quinidine therapy may be effective --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:quinidine therapy may be effective | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  584. en:severe ambulatory restriction --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:severe ambulatory restriction | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  585. en:short umbilical cord --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:short umbilical cord | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  586. en:surviving males are postzygotic mosaic for ebp mutations --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:surviving males are postzygotic mosaic for ebp mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  587. en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  588. en:symptoms precipitated by stress, exertion, fatigue, alcohol --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms precipitated by stress, exertion, fatigue, alcohol | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  589. en:symptoms present from infancy or early childhood --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms present from infancy or early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  590. en:therapy is placement of implantable cardioverter defibrillator (icd) --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:therapy is placement of implantable cardioverter defibrillator (icd) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  591. en:three fetuses from 1 family have been reported (last curated august 2015) --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:three fetuses from 1 family have been reported (last curated august 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  592. en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015) --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  593. en:variable age at onset (late childhood to adult) --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (late childhood to adult) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  594. en:variable age at onset, first to second decades --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset, first to second decades | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  595. rétinite pigmentaire liée au sexe récessive 3 --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=rétinite pigmentaire liée au sexe récessive 3 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  596. une anomalie congénitale --- r_associated #0: 28 --> en:incidence of 1 in 250,000 births
    n1=une anomalie congénitale | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=28
  597. en:abnormal sensitivity to therapeutic radiation --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:abnormal sensitivity to therapeutic radiation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  598. en:age at onset 8 to 55 years (mean 40 years) --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:age at onset 8 to 55 years (mean 40 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  599. en:age of onset ranges from 1 to 47 years --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset ranges from 1 to 47 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  600. en:aortic dissection may occur in second decade of life --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:aortic dissection may occur in second decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  601. 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: 27 --> en:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  602. en:ataxia is nonprogressive --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:ataxia is nonprogressive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  603. en:autosomal recessive form (277720) has also been described --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal recessive form (277720) has also been described | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  604. en:average disease duration of 7 years --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:average disease duration of 7 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  605. en:both mutations occurred de novo --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:both mutations occurred de novo | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  606. en:cardiac examination is usually unremarkable --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:cardiac examination is usually unremarkable | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  607. en:cardiomyopathy is not a feature --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:cardiomyopathy is not a feature | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  608. en:childhood or adolescent onset (usually less than 25 years) --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:childhood or adolescent onset (usually less than 25 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  609. en:chronic course with exacerbations and remissions --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:chronic course with exacerbations and remissions | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  610. en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  611. en:cold-induced sweating develops late in the first decade --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:cold-induced sweating develops late in the first decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  612. en:contractures other than plantar are less common and less severe --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:contractures other than plantar are less common and less severe | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  613. en:death usually in newborn period or infancy --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:death usually in newborn period or infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  614. en:diurnal fluctuation --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:diurnal fluctuation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  615. en:episodes are triggered by cold exposure --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:episodes are triggered by cold exposure | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  616. en:episodes occur 30 minutes to 3 hours after exposure to cold --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:episodes occur 30 minutes to 3 hours after exposure to cold | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  617. en:exacerbated by stress --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:exacerbated by stress | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  618. en:fatal without lung transplant --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:fatal without lung transplant | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  619. en:feet are unaffected in some patients --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:feet are unaffected in some patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  620. en:gastric suction pump, home model, portable or stationary, electric --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:gastric suction pump, home model, portable or stationary, electric | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  621. en:hearing loss occurs later if at all --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:hearing loss occurs later if at all | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  622. en:hematuria may become apparent after respiratory infections (synpharyngitic) --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:hematuria may become apparent after respiratory infections (synpharyngitic) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  623. en:high frequency of absence seizures (several per day) --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:high frequency of absence seizures (several per day) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  624. en:homozygotes have more severe disease with earlier onset of thrombosis --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:homozygotes have more severe disease with earlier onset of thrombosis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  625. en:immunologic defects are variable --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:immunologic defects are variable | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  626. en:individuals do not develop erythrocytosis under hypoxic conditions --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:individuals do not develop erythrocytosis under hypoxic conditions | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  627. en:intrafamilial variability in nail changes --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:intrafamilial variability in nail changes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  628. en:juvenile rigid early-onset form more often paternally inherited --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:juvenile rigid early-onset form more often paternally inherited | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  629. en:left sided involvement occurs more frequently --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:left sided involvement occurs more frequently | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  630. en:lifetime risk of breast cancer in mutation carriers is 60 to 85% --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:lifetime risk of breast cancer in mutation carriers is 60 to 85% | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  631. en:live born infants die within few hours of birth --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:live born infants die within few hours of birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  632. en:majority are stillborn or die in early neonatal period --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:majority are stillborn or die in early neonatal period | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  633. en:majority die in neonatal period secondary to respiratory insufficiency --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:majority die in neonatal period secondary to respiratory insufficiency | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  634. en:majority of patients are ambulatory --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:majority of patients are ambulatory | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  635. en:male to female ratio 4:1 --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:male to female ratio 4:1 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  636. en:manifestations continue to appear until 5th decade --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:manifestations continue to appear until 5th decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  637. en:many adults with typical form remain ambulatory --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:many adults with typical form remain ambulatory | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  638. en:many patients become wheelchair-bound --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:many patients become wheelchair-bound | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  639. en:may be due to imprinting defect --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:may be due to imprinting defect | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  640. en:may show good response to levodopa --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:may show good response to levodopa | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  641. en:mean age of diagnosis 40 years --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:mean age of diagnosis 40 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  642. en:mean age of onset 31 years (range 5-60) --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:mean age of onset 31 years (range 5-60) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  643. en:mean age of onset 50 to 52 years --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:mean age of onset 50 to 52 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  644. en:nine patients have been reported (last curated july 2015) --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:nine patients have been reported (last curated july 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  645. en:sensorineural hearing loss may be presenting feature --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:sensorineural hearing loss may be presenting feature | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  646. en:subset of patients have leigh syndrome (256000) --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=en:subset of patients have leigh syndrome (256000) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  647. maladie opportuniste --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=maladie opportuniste | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  648. malformation --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=malformation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  649. rétinite pigmentaire, surdité, retard mental, et hypogonadisme --- r_associated #0: 27 --> en:incidence of 1 in 250,000 births
    n1=rétinite pigmentaire, surdité, retard mental, et hypogonadisme | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=27
  650. en:absence seizures show onset between 3.5 and 4 years --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:absence seizures show onset between 3.5 and 4 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  651. en:age of onset usually 1 week to 2 years --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset usually 1 week to 2 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  652. en:allelic disorder to benign hereditary chorea (118700), which is less severe --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to benign hereditary chorea (118700), which is less severe | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  653. en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  654. en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900) --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  655. en:asymmetric muscle involvement --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:asymmetric muscle involvement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  656. en:autosomal recessive inheritance with earlier onset has been reported in 3 patients --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal recessive inheritance with earlier onset has been reported in 3 patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  657. en:average age at onset between 40 and 50 years --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:average age at onset between 40 and 50 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  658. en:based on one jordanian family (last curated august 2015) --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:based on one jordanian family (last curated august 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  659. en:breech presentation --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:breech presentation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  660. en:clinical and biochemical abnormalities disappear with age --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:clinical and biochemical abnormalities disappear with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  661. en:clinical variability, both pure and complicated forms --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:clinical variability, both pure and complicated forms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  662. en:compound heterozygosity common --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:compound heterozygosity common | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  663. en:death secondary to renal failure, cardiac or cerebrovascular disease --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:death secondary to renal failure, cardiac or cerebrovascular disease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  664. en:death usually in first year of life --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:death usually in first year of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  665. en:diarrhea worsens in parallel with increases in severity of skin disease --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:diarrhea worsens in parallel with increases in severity of skin disease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  666. en:diurnal fluctuation of neurologic symptoms --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:diurnal fluctuation of neurologic symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  667. en:dramatic improvement with proper treatment --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:dramatic improvement with proper treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  668. en:earlier onset is associated with more rapid progression --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:earlier onset is associated with more rapid progression | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  669. en:early onset (9-48 years, but reported up to 68 years) --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:early onset (9-48 years, but reported up to 68 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  670. en:elevated body temperatures to 42 degrees celsius --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:elevated body temperatures to 42 degrees celsius | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  671. en:familial occurrence is rare --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:familial occurrence is rare | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  672. en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  673. en:female carriers may show intermittent hematuria --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:female carriers may show intermittent hematuria | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  674. en:females often show milder phenotype with later onset of cardiac symptoms --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:females often show milder phenotype with later onset of cardiac symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  675. en:frequency and severity of symptoms do not worsen with age --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:frequency and severity of symptoms do not worsen with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  676. en:genetic heterogeneity (see 605407) --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see 605407) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  677. en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700) --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  678. en:heterozygous females more mildly affected than hemizygous males --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygous females more mildly affected than hemizygous males | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  679. en:high risk of recurrence after surgery --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:high risk of recurrence after surgery | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  680. en:highly variable organ involvement and severity --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:highly variable organ involvement and severity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  681. en:highly variable phenotype, ranging from asymptomatic to severe --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:highly variable phenotype, ranging from asymptomatic to severe | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  682. en:hyperthermia in early childhood --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:hyperthermia in early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  683. en:incidence 1 in 15,000-28,000 births --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:incidence 1 in 15,000-28,000 births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  684. en:incidence of 1 in 1.5 million births --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 1.5 million births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  685. en:incomplete penetrance (50%) --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:incomplete penetrance (50%) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  686. en:incomplete penetrance with 45 to 51 repeats --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:incomplete penetrance with 45 to 51 repeats | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  687. en:increased paternal age --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:increased paternal age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  688. en:increased susceptibility to malignant hyperthermia --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:increased susceptibility to malignant hyperthermia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  689. en:independent ambulation is maintained --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:independent ambulation is maintained | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  690. en:initial hearing loss is mild progressing to severe or profound by the seventh decade --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:initial hearing loss is mild progressing to severe or profound by the seventh decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  691. en:lifelong occurrence --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:lifelong occurrence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  692. en:long headache duration (greater than 12 hours) --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:long headache duration (greater than 12 hours) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  693. en:majority of cases diagnosed at age 10-15 years --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:majority of cases diagnosed at age 10-15 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  694. en:majority of children die between 6 months and 5 yrs --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:majority of children die between 6 months and 5 yrs | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  695. en:male-to-female ratio of 3:2 in childhood cases --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:male-to-female ratio of 3:2 in childhood cases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  696. en:males more affected than females (2 to 2.5:1) --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:males more affected than females (2 to 2.5:1) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  697. en:many patients lose independent mobility after 25 years --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:many patients lose independent mobility after 25 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  698. en:maternal anticipation bias --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:maternal anticipation bias | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  699. en:may have seasonal variance in severity --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:may have seasonal variance in severity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  700. en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  701. en:mean age of onset in third decade --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:mean age of onset in third decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  702. en:median age at diagnosis, 59 years --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:median age at diagnosis, 59 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  703. en:median survival 5.7 years --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:median survival 5.7 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  704. en:milder form with onset in childhood, absence seizures, and learning difficulties --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:milder form with onset in childhood, absence seizures, and learning difficulties | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  705. en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  706. en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  707. en:premature aging syndrome --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:premature aging syndrome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  708. en:presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  709. en:skewed x-inactivation, with complete skewing in some individuals --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:skewed x-inactivation, with complete skewing in some individuals | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  710. en:three unrelated patients have been reported (last curated july 2015) --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:three unrelated patients have been reported (last curated july 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  711. en:treatment with sulfonylurea can be effective --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:treatment with sulfonylurea can be effective | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  712. en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015) --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  713. en:two unrelated consanguineous families have been reported (last curated july 2015) --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated consanguineous families have been reported (last curated july 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  714. présentation du siège --- r_associated #0: 26 --> en:incidence of 1 in 250,000 births
    n1=présentation du siège | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=26
  715. rétinite pigmentaire et retard mental --- r_associated #0: 25 --> en:incidence of 1 in 250,000 births
    n1=rétinite pigmentaire et retard mental | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=25
  716. rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr) --- r_associated #0: 24 --> en:incidence of 1 in 250,000 births
    n1=rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=24
  717. rétinopathie pigmentaire --- r_associated #0: 24 --> en:incidence of 1 in 250,000 births
    n1=rétinopathie pigmentaire | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=24
  718. rétinite pigmentaire liée à la périphérine --- r_associated #0: 23 --> en:incidence of 1 in 250,000 births
    n1=rétinite pigmentaire liée à la périphérine | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=23
  719. rétinite pigmentaire --- r_associated #0: 22 --> en:incidence of 1 in 250,000 births
    n1=rétinite pigmentaire | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=22
  720. rétinite pigmentaire liée à la rhodopsine --- r_associated #0: 22 --> en:incidence of 1 in 250,000 births
    n1=rétinite pigmentaire liée à la rhodopsine | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=22
  721. rétinite pigmentaire sénile --- r_associated #0: 22 --> en:incidence of 1 in 250,000 births
    n1=rétinite pigmentaire sénile | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=22
  722. Hydramnios --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=Hydramnios | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  723. en:'second wind' phenomenon --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:'second wind' phenomenon | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  724. en:'variant 2' has isolated methylmalonicaciduria and decreased adocbl --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:'variant 2' has isolated methylmalonicaciduria and decreased adocbl | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  725. en:'variant' form of x-linked cgd retains residual cytochrome b(-245) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:'variant' form of x-linked cgd retains residual cytochrome b(-245) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  726. en:(1) classic severe (onset of symptoms 4 to 7 days of age) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:(1) classic severe (onset of symptoms 4 to 7 days of age) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  727. en:(1) infantile nephropathic (219800) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:(1) infantile nephropathic (219800) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  728. en:(2) intermittent --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:(2) intermittent | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  729. en:(2) juvenile or adolescent nephropathic (219900) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:(2) juvenile or adolescent nephropathic (219900) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  730. en:(3) intermediate --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:(3) intermediate | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  731. en:(4) thiamine-responsive form --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:(4) thiamine-responsive form | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  732. en:(5) dihydrolipoyl dehydrogenase (e3)-deficient --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:(5) dihydrolipoyl dehydrogenase (e3)-deficient | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  733. en:1 in 17,000 in china --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:1 in 17,000 in china | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  734. en:1 in 19,000 in japan --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:1 in 19,000 in japan | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  735. en:1 in 50,000 in korea --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:1 in 50,000 in korea | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  736. en:1 patient reported (last curated may 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:1 patient reported (last curated may 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  737. en:1.02 kb genomic deletion in 85% of batten disease alleles worldwide --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:1.02 kb genomic deletion in 85% of batten disease alleles worldwide | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  738. en:10% due to paternal deletion --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:10% due to paternal deletion | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  739. en:10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  740. en:12% due to epimutation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:12% due to epimutation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  741. en:13% of cases secondary to familial translocation (often maternally derived) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:13% of cases secondary to familial translocation (often maternally derived) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  742. en:14 patients in 8 recessive kindreds reported (as of february 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:14 patients in 8 recessive kindreds reported (as of february 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  743. en:14% of patients survive with polyhydramnios --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:14% of patients survive with polyhydramnios | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  744. en:15 patients from 5 kindreds reported (as of february 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:15 patients from 5 kindreds reported (as of february 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  745. en:15% cases are familial --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:15% cases are familial | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  746. en:2 patients described --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:2 patients described | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  747. en:2% due to paternal uniparental disomy of 15q11.2-q13 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:2% due to paternal uniparental disomy of 15q11.2-q13 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  748. en:2-3% due to imprinting defects --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:2-3% due to imprinting defects | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  749. en:2-locus model fits simultaneous autosomal recessive gene and mitochondrial gene mutation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:2-locus model fits simultaneous autosomal recessive gene and mitochondrial gene mutation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  750. en:20-40% patients are asymptomatic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:20-40% patients are asymptomatic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  751. en:21 patients from 17 kindreds reported (as of february 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:21 patients from 17 kindreds reported (as of february 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  752. en:21% of hereditary wilms tumor are bilateral --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:21% of hereditary wilms tumor are bilateral | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  753. en:22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome (192430) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome (192430) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  754. en:23 patients from 2 kindreds reported (as of february 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:23 patients from 2 kindreds reported (as of february 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  755. en:25% due to mutations in ube3a (601623) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:25% due to mutations in ube3a (601623) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  756. en:2:1 female preponderance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:2:1 female preponderance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  757. en:3 reported cases, 1 pedigree of affected sibs, neither parent affected --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:3 reported cases, 1 pedigree of affected sibs, neither parent affected | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  758. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  759. en:35% of patients have facial dysmorphism --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:35% of patients have facial dysmorphism | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  760. en:40 patients in 16 dominant kindreds reported (as of february 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:40 patients in 16 dominant kindreds reported (as of february 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  761. en:40% patients have associated abnormalities --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:40% patients have associated abnormalities | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  762. en:5-10% of all wilms tumor are bilateral --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:5-10% of all wilms tumor are bilateral | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  763. en:5-10% of patients have a first degree relative with ibd (crohn or ulcerative colitis) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:5-10% of patients have a first degree relative with ibd (crohn or ulcerative colitis) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  764. en:5-10% of patients have a first degree relative with ibd (ulcerative colitis or crohn disease) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:5-10% of patients have a first degree relative with ibd (ulcerative colitis or crohn disease) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  765. en:50% of cases are de novo --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:50% of cases are de novo | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  766. en:50% of females have learning disability or mild mental retardation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:50% of females have learning disability or mild mental retardation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  767. en:7 unrelated patients have been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:7 unrelated patients have been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  768. en:70% due to de novo maternal deletion of 15q11.2-q13 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:70% due to de novo maternal deletion of 15q11.2-q13 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  769. en:75% of affected individuals are female --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:75% of affected individuals are female | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  770. en:78% due to chromosome 14 maternal uniparental disomy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:78% due to chromosome 14 maternal uniparental disomy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  771. en:80% cases new mutations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:80% cases new mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  772. en:85-90% with manifestations in first months of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:85-90% with manifestations in first months of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  773. en:87% patients are female --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:87% patients are female | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  774. en:94% develop hypertension at 18 years of age or less --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:94% develop hypertension at 18 years of age or less | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  775. en:95% of cases are sporadic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:95% of cases are sporadic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  776. en:98% of finnish cases due to one mutation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:98% of finnish cases due to one mutation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  777. en:99+% of the mutations are fgfr3, g380r (134934.0001) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:99+% of the mutations are fgfr3, g380r (134934.0001) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  778. en:a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  779. en:a minority of patients have onset after age 30 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:a minority of patients have onset after age 30 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  780. en:a mutation in the cxorf5 gene has been reported in 1 affected family --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:a mutation in the cxorf5 gene has been reported in 1 affected family | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  781. en:a mutation in the lbr gene has been identified in 1 patient (as of july 2010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:a mutation in the lbr gene has been identified in 1 patient (as of july 2010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  782. en:a nonspecific marker of somatic mosaicism --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:a nonspecific marker of somatic mosaicism | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  783. en:a second family had mild intellectual disability --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:a second family had mild intellectual disability | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  784. en:a second patient died at age 3 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:a second patient died at age 3 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  785. en:a severe infantile variant has been rarely reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:a severe infantile variant has been rarely reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  786. en:a subgroup of patients with sponastrime dysplasia have severe mental retardation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:a subgroup of patients with sponastrime dysplasia have severe mental retardation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  787. en:a subset of patients are responsive to vitamin b12 therapy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:a subset of patients are responsive to vitamin b12 therapy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  788. en:a subset of patients have a 'visual variant' --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:a subset of patients have a 'visual variant' | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  789. 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:incidence of 1 in 250,000 births
    n1=en:a subset of patients have additional features, including mental retardation and hypogonadism associated with larger deletions at xp22.3 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  790. en:a subset of patients have heterozygous mutations consistent with a dominant-negative effect --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:a subset of patients have heterozygous mutations consistent with a dominant-negative effect | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  791. en:a subset of patients have heterozygous mutations, which may predispose to disease development --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:a subset of patients have heterozygous mutations, which may predispose to disease development | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  792. en:a subset of patients improve with thiamine --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:a subset of patients improve with thiamine | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  793. en:a subset of patients may have congenital abnormalities of the ocular anterior segment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:a subset of patients may have congenital abnormalities of the ocular anterior segment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  794. en:a wnt3 mutation has been identified in 1 affected family --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:a wnt3 mutation has been identified in 1 affected family | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  795. en:abnormal morphogenesis of first and second branchial arches --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:abnormal morphogenesis of first and second branchial arches | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  796. en:abnormal transferrin pattern tends to improve with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:abnormal transferrin pattern tends to improve with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  797. en:about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  798. en:about 10% of patients develop exercise-induced renal failure and nephrolithiasis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:about 10% of patients develop exercise-induced renal failure and nephrolithiasis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  799. en:about 10% of patients have a severe early onset in the first months of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:about 10% of patients have a severe early onset in the first months of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  800. en:about 15% of female carriers develop renal insufficiency in the second or third decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:about 15% of female carriers develop renal insufficiency in the second or third decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  801. en:about 25% of cases due to new mutations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:about 25% of cases due to new mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  802. en:about 5% of patients have a history of febrile seizures --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:about 5% of patients have a history of febrile seizures | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  803. en:about 50% of mutation carriers are asymptomatic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:about 50% of mutation carriers are asymptomatic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  804. en:about 50% of patients become wheelchair-bound at an average age of 37 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:about 50% of patients become wheelchair-bound at an average age of 37 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  805. en:about 50% of patients have intellectual disability and/or hydrocephalus --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:about 50% of patients have intellectual disability and/or hydrocephalus | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  806. en:about 8% of female mutation carriers develop dilated cardiomyopathy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:about 8% of female mutation carriers develop dilated cardiomyopathy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  807. en:about a dozen patients have been reported (as of march 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:about a dozen patients have been reported (as of march 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  808. en:about half of individuals are asymptomatic and identified by newborn screening programs --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:about half of individuals are asymptomatic and identified by newborn screening programs | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  809. en:about half of patients become wheelchair bound after long duration --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:about half of patients become wheelchair bound after long duration | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  810. en:about half of patients report vestibular symptoms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:about half of patients report vestibular symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  811. en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  812. en:absence of both inner and outer dynein arms of cilia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:absence of both inner and outer dynein arms of cilia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  813. en:absence of premature birth, low birthweight, and exposure to oxygen --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:absence of premature birth, low birthweight, and exposure to oxygen | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  814. en:absence seizures usually remit by puberty --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:absence seizures usually remit by puberty | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  815. en:acanthosis nigricans fades during adolescence and reappears in pregnancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:acanthosis nigricans fades during adolescence and reappears in pregnancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  816. en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation' --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation' | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  817. en:accounts for 1-2% of lymphomas in adults --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:accounts for 1-2% of lymphomas in adults | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  818. en:accounts for 30-50% of lymphomas in children --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:accounts for 30-50% of lymphomas in children | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  819. en:accounts for 5 to 7% of all cases of congenital adrenal hyperplasia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:accounts for 5 to 7% of all cases of congenital adrenal hyperplasia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  820. en:accounts for 5-15% of childhood epilepsies --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:accounts for 5-15% of childhood epilepsies | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  821. en:accounts for 70% of all usher syndrome patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:accounts for 70% of all usher syndrome patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  822. en:accounts for <2% of patients with alzheimer's disease --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:accounts for <2% of patients with alzheimer's disease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  823. en:accounts for approximately 5% of the epilepsies --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:accounts for approximately 5% of the epilepsies | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  824. en:acetazolamide is often effective --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:acetazolamide is often effective | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  825. en:acetazolamide may benefit attacks of vertigo --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:acetazolamide may benefit attacks of vertigo | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  826. en:acquired autoimmune disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:acquired autoimmune disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  827. en:acquired disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:acquired disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  828. en:acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  829. en:acquired protein c deficiency seen in liver disease, dic, and following surgery --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:acquired protein c deficiency seen in liver disease, dic, and following surgery | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  830. en:acquired protein s deficiency seen in pregnancy, oral contraceptive use, warfarin use, liver disease, dic, and diabetes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:acquired protein s deficiency seen in pregnancy, oral contraceptive use, warfarin use, liver disease, dic, and diabetes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  831. en:acquired sporadic disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:acquired sporadic disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  832. en:acral form of skin peeling limited to hands and feet (609796) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:acral form of skin peeling limited to hands and feet (609796) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  833. en:acral hemorrhagic variant --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:acral hemorrhagic variant | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  834. en:acute attacks lasting 24-48 hours --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:acute attacks lasting 24-48 hours | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  835. en:acute attacks rarely occur before puberty --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:acute attacks rarely occur before puberty | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  836. en:acute encephalopathic episodes may occur --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:acute encephalopathic episodes may occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  837. en:acute episodes decrease with age and disappear --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:acute episodes decrease with age and disappear | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  838. en:acute neurologic deterioration after viral illness has been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:acute neurologic deterioration after viral illness has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  839. en:additional developmental abnormalities may be seen in some patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:additional developmental abnormalities may be seen in some patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  840. en:additional features are variably present --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:additional features are variably present | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  841. en:adolescent or adult onset associated with neuropsychiatric symptoms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adolescent or adult onset associated with neuropsychiatric symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  842. en:adult form is asymptomatic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult form is asymptomatic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  843. en:adult form onset has after 20 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult form onset has after 20 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  844. en:adult is an acronym for acro-dermato-ungual-lacrimal-tooth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult is an acronym for acro-dermato-ungual-lacrimal-tooth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  845. en:adult onset (18 to 60 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (18 to 60 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  846. en:adult onset (20 to 40 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (20 to 40 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  847. en:adult onset (25-45 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (25-45 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  848. en:adult onset (27 to 48 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (27 to 48 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  849. en:adult onset (37 to 57 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (37 to 57 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  850. en:adult onset (40 to 60 years old) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (40 to 60 years old) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  851. en:adult onset (45 to 76 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (45 to 76 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  852. en:adult onset (after age 35 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (after age 35 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  853. en:adult onset (before 50 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (before 50 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  854. en:adult onset (forties) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (forties) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  855. en:adult onset (mean 27 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (mean 27 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  856. en:adult onset (mean 30 years, range 10-65 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (mean 30 years, range 10-65 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  857. en:adult onset (mean 30 years, range 5-60 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (mean 30 years, range 5-60 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  858. en:adult onset (mean 60 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (mean 60 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  859. en:adult onset (mean age 37 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (mean age 37 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  860. en:adult onset (mean of 30 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (mean of 30 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  861. en:adult onset (mid-forties) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (mid-forties) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  862. en:adult onset (range 12 to 59 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (range 12 to 59 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  863. en:adult onset (range 14 to 70 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (range 14 to 70 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  864. en:adult onset (range 15 to 53 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (range 15 to 53 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  865. en:adult onset (range 28 to 55 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (range 28 to 55 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  866. en:adult onset (range 30 to 50 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (range 30 to 50 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  867. en:adult onset (range 34 to 66 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (range 34 to 66 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  868. en:adult onset (range 40 to 60 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (range 40 to 60 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  869. en:adult onset (range 45 to 70 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (range 45 to 70 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  870. en:adult onset (second to sixth decade) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (second to sixth decade) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  871. en:adult onset (sixth decade) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (sixth decade) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  872. en:adult onset (third decade) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (third decade) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  873. en:adult onset (thirties to forties) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset (thirties to forties) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  874. en:adult onset - 100-1,000 repeats --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset - 100-1,000 repeats | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  875. en:adult onset after puberty --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset after puberty | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  876. en:adult onset form usually presents with psychiatric manifestations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset form usually presents with psychiatric manifestations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  877. en:adult onset has been rarely reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset has been rarely reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  878. en:adult onset has been reported (age 50 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset has been reported (age 50 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  879. en:adult onset may also occur --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset may also occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  880. en:adult onset may occur --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset may occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  881. en:adult onset of gait abnormalities --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset of gait abnormalities | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  882. en:adult onset of muscle symptoms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset of muscle symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  883. en:adult onset of symptoms has been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset of symptoms has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  884. en:adult onset rarely reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset rarely reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  885. en:adult onset, usually 30's to 40's, but up to early 60's --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult onset, usually 30's to 40's, but up to early 60's | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  886. en:adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  887. en:adult-onset in third to fourth decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult-onset in third to fourth decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  888. en:adult-onset is referred to as small fiber neuropathy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adult-onset is referred to as small fiber neuropathy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  889. en:adults may be asymptomatic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adults may be asymptomatic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  890. en:adults may lose ability to walk --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:adults may lose ability to walk | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  891. en:affected females are infertile --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affected females are infertile | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  892. en:affected females have been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affected females have been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  893. en:affected females may have increased spontaneous abortions --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affected females may have increased spontaneous abortions | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  894. en:affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  895. en:affected individuals are highly prone to burn-related injuries --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affected individuals are highly prone to burn-related injuries | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  896. en:affected individuals can pull hair from any part of the body, including eyelashes and eyebrows --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affected individuals can pull hair from any part of the body, including eyelashes and eyebrows | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  897. en:affected individuals have amnesia for events --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affected individuals have amnesia for events | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  898. en:affected individuals may have learning or behavioral problems during the period when seizures occur --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affected individuals may have learning or behavioral problems during the period when seizures occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  899. en:affected individuals remain ambulatory --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affected individuals remain ambulatory | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  900. en:affected individuals remain ambulatory in old age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affected individuals remain ambulatory in old age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  901. en:affected infants appear normal --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affected infants appear normal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  902. en:affected infants appear normal at birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affected infants appear normal at birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  903. en:affected infants die in neonatal period --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affected infants die in neonatal period | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  904. en:affected infants often die in utero or in the postnatal period --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affected infants often die in utero or in the postnatal period | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  905. en:affected males are all result of new mutation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affected males are all result of new mutation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  906. en:affected males are infertile, whereas affected females have recurrent pregnancy loss --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affected males are infertile, whereas affected females have recurrent pregnancy loss | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  907. en:affected males are somatic mosaic for mutations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affected males are somatic mosaic for mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  908. en:affected males have normal pubertal development and are fertile --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affected males have normal pubertal development and are fertile | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  909. en:affected males have onset of poor vision before the age of 2 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affected males have onset of poor vision before the age of 2 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  910. en:affected males have serotonin-related disorders such as migraine headaches and diabetes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affected males have serotonin-related disorders such as migraine headaches and diabetes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  911. en:affected males show onset of hematuria in first year of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affected males show onset of hematuria in first year of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  912. en:affected males who survive are secondary to new mutations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affected males who survive are secondary to new mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  913. en:affected patients have various combinations of the main clinical features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affected patients have various combinations of the main clinical features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  914. en:affected, mild - 50-150 repeats --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affected, mild - 50-150 repeats | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  915. en:affects 1 in 250,000 to 1 million people worldwide --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affects 1 in 250,000 to 1 million people worldwide | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  916. en:affects 1 to 3% of the population --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affects 1 to 3% of the population | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  917. en:affects between 1 in 200 to 1 in 400 individuals of northern european descent --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affects between 1 in 200 to 1 in 400 individuals of northern european descent | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  918. en:affects up to 10% of the population --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affects up to 10% of the population | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  919. en:affects up to 10% of women in their reproductive years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:affects up to 10% of women in their reproductive years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  920. en:age at death:time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age at death:time:point in time:^patient:quantitative | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  921. en:age at diagnosis 2-4 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age at diagnosis 2-4 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  922. en:age at diagnosis 26 +/- 14 years for recessive disease --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age at diagnosis 26 +/- 14 years for recessive disease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  923. en:age at diagnosis 28 +/- 18 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age at diagnosis 28 +/- 18 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  924. en:age at diagnosis 36 +/- 20 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age at diagnosis 36 +/- 20 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  925. en:age at diagnosis 9 +/- 6 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age at diagnosis 9 +/- 6 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  926. en:age at diagnosis of cataract may range up to 40 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age at diagnosis of cataract may range up to 40 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  927. en:age at first pregnancy:time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age at first pregnancy:time:point in time:^patient:quantitative | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  928. en:age at menarche:time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age at menarche:time:point in time:^patient:quantitative | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  929. en:age at menopause:time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age at menopause:time:point in time:^patient:quantitative | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  930. en:age at onset 15 to 25 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age at onset 15 to 25 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  931. en:age at onset 15 to 33 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age at onset 15 to 33 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  932. en:age at onset 3 to 23 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age at onset 3 to 23 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  933. en:age at onset can range from infancy to childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age at onset can range from infancy to childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  934. en:age at onset in females ranges from childhood to the fourth decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age at onset in females ranges from childhood to the fourth decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  935. en:age at onset in males ranges from 3 to 7 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age at onset in males ranges from 3 to 7 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  936. en:age at onset most often in childhood (first decade) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age at onset most often in childhood (first decade) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  937. en:age at onset ranges from 16 years to 65 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age at onset ranges from 16 years to 65 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  938. en:age at onset ranges from 50 to 70 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age at onset ranges from 50 to 70 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  939. en:age at onset ranges from childhood to adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age at onset ranges from childhood to adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  940. en:age at onset ranges from first to sixth decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age at onset ranges from first to sixth decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  941. en:age at onset ranges from neonatal to adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age at onset ranges from neonatal to adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  942. en:age of onset - birth to 15 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset - birth to 15 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  943. en:age of onset 1 to 2 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset 1 to 2 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  944. en:age of onset 17 to 68 years (mean 39) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset 17 to 68 years (mean 39) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  945. en:age of onset 2-8 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset 2-8 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  946. en:age of onset 20-65 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset 20-65 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  947. en:age of onset 23-59 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset 23-59 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  948. en:age of onset 28 to 70 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset 28 to 70 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  949. en:age of onset 30 to 60 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset 30 to 60 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  950. en:age of onset 36 to 55 years (mean 47) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset 36 to 55 years (mean 47) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  951. en:age of onset 43-64 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset 43-64 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  952. en:age of onset 5 to 19 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset 5 to 19 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  953. en:age of onset 5 to 22 years (mean 6.9) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset 5 to 22 years (mean 6.9) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  954. en:age of onset 5 to 40 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset 5 to 40 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  955. en:age of onset 6-10 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset 6-10 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  956. en:age of onset between 20 to 30 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset between 20 to 30 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  957. en:age of onset earlier in familial cases than in sporadic cases --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset earlier in familial cases than in sporadic cases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  958. en:age of onset from 18 to 45 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset from 18 to 45 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  959. en:age of onset of upper limb involvement 10-43 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset of upper limb involvement 10-43 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  960. en:age of onset ranges from infancy to young adulthood (6 months-19 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset ranges from infancy to young adulthood (6 months-19 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  961. en:age of onset ranges from neonate to adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset ranges from neonate to adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  962. en:age of onset third decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset third decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  963. en:age of onset varies between 18 years and 53 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset varies between 18 years and 53 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  964. en:age of onset within the first years of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset within the first years of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  965. en:age of onset, 6-20 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age of onset, 6-20 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  966. en:age on onset - adolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age on onset - adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  967. en:age-dependent penetrance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age-dependent penetrance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  968. en:age-related clinical course --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age-related clinical course | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  969. en:age:time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age:time:point in time:^patient:quantitative | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  970. en:age:time:pt:^egg donor:qn --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age:time:pt:^egg donor:qn | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  971. en:age:time:pt:^patient:qn:calculated --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age:time:pt:^patient:qn:calculated | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  972. en:age:time:pt:^patient:qn:estimated --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age:time:pt:^patient:qn:estimated | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  973. en:age:time:pt:^patient:qn:reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:age:time:pt:^patient:qn:reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  974. en:aggravated by physical activity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:aggravated by physical activity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  975. en:aggressive malignancies --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:aggressive malignancies | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  976. en:alcohol may alleviate symptoms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:alcohol may alleviate symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  977. en:all affected individuals have been stillborn or died in the neonatal period --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:all affected individuals have been stillborn or died in the neonatal period | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  978. en:all cases are de novo --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:all cases are de novo | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  979. en:all cases due to de novo mutation (last curated february 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:all cases due to de novo mutation (last curated february 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  980. en:all cases from a remote village, sabinas, in northern mexico --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:all cases from a remote village, sabinas, in northern mexico | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  981. en:all cases have been sporadic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:all cases have been sporadic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  982. en:all cases have been stillborn or immediate neonatal death --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:all cases have been stillborn or immediate neonatal death | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  983. en:all cases occur in a jewish religious isolate originally from cochin, india --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:all cases occur in a jewish religious isolate originally from cochin, india | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  984. en:all cases occur in old order amish, lancaster county, pennsylvania --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:all cases occur in old order amish, lancaster county, pennsylvania | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  985. en:all cases presumed de novo mutation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:all cases presumed de novo mutation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  986. en:all de novo mutations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:all de novo mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  987. en:all known cases are caused by a finnish founder mutation in the cln8 gene (607837.0001) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:all known cases are caused by a finnish founder mutation in the cln8 gene (607837.0001) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  988. en:all patients have duplication of at least the crebbp gene (600140) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:all patients have duplication of at least the crebbp gene (600140) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  989. en:all patients have severe hearing loss 10 to 15 years after onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:all patients have severe hearing loss 10 to 15 years after onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  990. en:all reported cases have de novo mutations (last curated october 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:all reported cases have de novo mutations (last curated october 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  991. en:all reported cases have occurred de novo --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:all reported cases have occurred de novo | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  992. en:all reported cases have occurred sporadically --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:all reported cases have occurred sporadically | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  993. en:all reported cases have resulted from de novo mutations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:all reported cases have resulted from de novo mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  994. en:all reported cases result from de novo mutation (last curated july 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:all reported cases result from de novo mutation (last curated july 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  995. en:all reported mutations have occurred de novo (last curated december 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:all reported mutations have occurred de novo (last curated december 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  996. en:all reported patients are female --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:all reported patients are female | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  997. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  998. en:allelic disorder is brugada syndrome (601144) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder is brugada syndrome (601144) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  999. en:allelic disorder is long qt syndrome-3 (lqt3, 603830) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder is long qt syndrome-3 (lqt3, 603830) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1000. en:allelic disorder to a form of dilated cardiomyopathy (cmd1g, 604145) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to a form of dilated cardiomyopathy (cmd1g, 604145) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1001. en:allelic disorder to adult polyglucosan body disease (263570) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to adult polyglucosan body disease (263570) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1002. en:allelic disorder to androgen insensitivity syndrome (ais, 300068) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to androgen insensitivity syndrome (ais, 300068) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1003. en:allelic disorder to ankyloblepharon-ectodermal defects, cleft lip/palate syndrome (aec, 106260) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to ankyloblepharon-ectodermal defects, cleft lip/palate syndrome (aec, 106260) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1004. en:allelic disorder to autosomal dominant form (129490) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to autosomal dominant form (129490) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1005. en:allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, 601317) and usher syndrome type ib (276900) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, 601317) and usher syndrome type ib (276900) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1006. en:allelic disorder to autosomal dominant optic atrophy and cataract (165300) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to autosomal dominant optic atrophy and cataract (165300) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1007. en:allelic disorder to autosomal dominant spg13 (605280) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to autosomal dominant spg13 (605280) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1008. en:allelic disorder to autosomal recessive charcot-marie-tooth disease type 4c (601596) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to autosomal recessive charcot-marie-tooth disease type 4c (601596) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1009. en:allelic disorder to autosomal recessive deafness 21 (dfnb21, 603629) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to autosomal recessive deafness 21 (dfnb21, 603629) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1010. en:allelic disorder to autosomal recessive form (224900) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to autosomal recessive form (224900) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1011. en:allelic disorder to autosomal recessive hearing loss (dfnb2, 600060) and usher syndrome type ib (276900) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to autosomal recessive hearing loss (dfnb2, 600060) and usher syndrome type ib (276900) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1012. en:allelic disorder to autosomal recessive inclusion body myopathy-2 (ibm2, 600737) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to autosomal recessive inclusion body myopathy-2 (ibm2, 600737) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1013. en:allelic disorder to benign recurrent intrahepatic cholestasis (bric1, 243300) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to benign recurrent intrahepatic cholestasis (bric1, 243300) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1014. en:allelic disorder to brachydactyly type b (113000) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to brachydactyly type b (113000) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1015. en:allelic disorder to branchiootic syndrome (bos1, 602588) and otofaciocervical syndrome (166780) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to branchiootic syndrome (bos1, 602588) and otofaciocervical syndrome (166780) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1016. en:allelic disorder to branchiootorenal syndrome (bor, 113650) and otofaciocervical syndrome (166780) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to branchiootorenal syndrome (bor, 113650) and otofaciocervical syndrome (166780) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1017. en:allelic disorder to charcot-marie-tooth disease 2f (cmt2f, 606595) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to charcot-marie-tooth disease 2f (cmt2f, 606595) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1018. en:allelic disorder to charcot-marie-tooth disease type 1a (118220) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to charcot-marie-tooth disease type 1a (118220) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1019. en:allelic disorder to charcot-marie-tooth disease type 2a2 (cmt2a2, 609260) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to charcot-marie-tooth disease type 2a2 (cmt2a2, 609260) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1020. 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:incidence of 1 in 250,000 births
    n1=en:allelic disorder to charcot-marie-tooth disease type 2d (cmt2d, 601472), but distinguished by less severe distal sensory involvement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1021. en:allelic disorder to child syndrome (308050) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to child syndrome (308050) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1022. en:allelic disorder to cln8 (600143) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to cln8 (600143) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1023. en:allelic disorder to cmt4a (214400) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to cmt4a (214400) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1024. en:allelic disorder to corticosterone methyloxidase type i deficiency (203400) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to corticosterone methyloxidase type i deficiency (203400) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1025. en:allelic disorder to corticosterone methyloxidase type ii deficiency (610600) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to corticosterone methyloxidase type ii deficiency (610600) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1026. en:allelic disorder to dilated cardiomyopathy 1n (cmd1n, 607487) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to dilated cardiomyopathy 1n (cmd1n, 607487) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1027. 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:incidence of 1 in 250,000 births
    n1=en:allelic disorder to distal spinal muscular atrophy type v (dsmav, 600794), but distinguished by more severe distal sensory involvement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1028. en:allelic disorder to distal spinal muscular atrophy, type v (dsmav, 600794), but distinguished by the presence of spasticity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to distal spinal muscular atrophy, type v (dsmav, 600794), but distinguished by the presence of spasticity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1029. en:allelic disorder to duane-radial ray syndrome (drrs, 607323) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to duane-radial ray syndrome (drrs, 607323) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1030. en:allelic disorder to dunnigan-type familial partial lipodystrophy (151660) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to dunnigan-type familial partial lipodystrophy (151660) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1031. en:allelic disorder to ebs dowling-meara (131760), ebs koebner (131900), and ebs weber-cockayne (131800) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to ebs dowling-meara (131760), ebs koebner (131900), and ebs weber-cockayne (131800) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1032. en:allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, 604292) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, 604292) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1033. en:allelic disorder to episodic ataxia-2 (ea2, 108500) and spinocerebellar ataxia-6 (sca6, 183086) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to episodic ataxia-2 (ea2, 108500) and spinocerebellar ataxia-6 (sca6, 183086) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1034. en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1035. en:allelic disorder to familial hypertrophic cardiomyopathy (cmh, 192600) and laing distal myopathy (160500) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to familial hypertrophic cardiomyopathy (cmh, 192600) and laing distal myopathy (160500) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1036. en:allelic disorder to generalized epilepsy with seizures-plus (gefs+, 604233) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to generalized epilepsy with seizures-plus (gefs+, 604233) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1037. en:allelic disorder to glut1 deficiency syndrome 1 (606777) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to glut1 deficiency syndrome 1 (606777) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1038. en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1039. en:allelic disorder to hyperkalemic periodic paralysis (hypp, 608390) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to hyperkalemic periodic paralysis (hypp, 608390) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1040. en:allelic disorder to hypokalemic periodic paralysis (hokpp, 170400) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to hypokalemic periodic paralysis (hokpp, 170400) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1041. en:allelic disorder to ifap syndrome (308205) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to ifap syndrome (308205) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1042. en:allelic disorder to infantile neuroaxonal dystrophy (256600) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to infantile neuroaxonal dystrophy (256600) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1043. en:allelic disorder to infantile-onset ascending spastic paralysis (iahsp, 607225) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to infantile-onset ascending spastic paralysis (iahsp, 607225) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1044. en:allelic disorder to intrahepatic cholestasis of pregnancy (icp, 147480) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to intrahepatic cholestasis of pregnancy (icp, 147480) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1045. en:allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, 205100) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, 205100) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1046. en:allelic disorder to juvenile nephronophthisis-1 (256100) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to juvenile nephronophthisis-1 (256100) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1047. en:allelic disorder to juvenile primary lateral sclerosis (plsj, 606353) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to juvenile primary lateral sclerosis (plsj, 606353) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1048. en:allelic disorder to juvenile-onset amyotrophic lateral sclerosis (als2, 205100) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to juvenile-onset amyotrophic lateral sclerosis (als2, 205100) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1049. en:allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, 607801) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, 607801) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1050. en:allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, 253601) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, 253601) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1051. en:allelic disorder to limb-mammary syndrome (lms, 603543) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to limb-mammary syndrome (lms, 603543) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1052. en:allelic disorder to long qt syndrome-1 (lqt1, 192500) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to long qt syndrome-1 (lqt1, 192500) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1053. en:allelic disorder to margarita island type of ectodermal dysplasia (225060) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to margarita island type of ectodermal dysplasia (225060) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1054. en:allelic disorder to miyoshi muscular dystrophy 3 (mmd3, 613319) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to miyoshi muscular dystrophy 3 (mmd3, 613319) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1055. en:allelic disorder to miyoshi myopathy (254130) and distal myopathy with anterior tibial onset (606768) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to miyoshi myopathy (254130) and distal myopathy with anterior tibial onset (606768) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1056. en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and brooke-spiegler syndrome (bss, 605041) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and brooke-spiegler syndrome (bss, 605041) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1057. en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and familial cylindromatosis (fc, 132700) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and familial cylindromatosis (fc, 132700) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1058. en:allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, 610217) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, 610217) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1059. en:allelic disorder to nf1 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to nf1 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1060. en:allelic disorder to nieman-pick disease type b (607616) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to nieman-pick disease type b (607616) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1061. en:allelic disorder to niemann-pick disease type a (257200) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to niemann-pick disease type a (257200) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1062. en:allelic disorder to nonaka myopathy (605820) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to nonaka myopathy (605820) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1063. en:allelic disorder to northern epilepsy (610003) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to northern epilepsy (610003) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1064. en:allelic disorder to opitz-kaveggia syndrome (305450) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to opitz-kaveggia syndrome (305450) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1065. en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1066. en:allelic disorder to osmed (215150) allelic disorder to weissenbacher-zweymuller syndrome (277610) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to osmed (215150) allelic disorder to weissenbacher-zweymuller syndrome (277610) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1067. en:allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, 259770) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, 259770) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1068. en:allelic disorder to paramyotonia congenita (168300) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to paramyotonia congenita (168300) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1069. en:allelic disorder to parkinson disease-1 (park1, 168601) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to parkinson disease-1 (park1, 168601) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1070. en:allelic disorder to primary erythermalgia (133020) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to primary erythermalgia (133020) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1071. en:allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, 211600) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, 211600) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1072. en:allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, 601847) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, 601847) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1073. en:allelic disorder to rapp-hodgkin syndrome (rhs, 129400) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to rapp-hodgkin syndrome (rhs, 129400) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1074. en:allelic disorder to rett syndrome (312750) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to rett syndrome (312750) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1075. en:allelic disorder to rigid spine muscular dystrophy (rsmd1, 602771) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to rigid spine muscular dystrophy (rsmd1, 602771) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1076. en:allelic disorder to rippling muscle disease (rmd, 606072) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to rippling muscle disease (rmd, 606072) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1077. en:allelic disorder to schindler disease (609241) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to schindler disease (609241) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1078. en:allelic disorder to silver syndrome (270685), but distinguished by lack of spasticity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to silver syndrome (270685), but distinguished by lack of spasticity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1079. en:allelic disorder to spastic paraplegia-3 (spg3, 182600) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to spastic paraplegia-3 (spg3, 182600) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1080. en:allelic disorder to spinal muscular atrophy type i (253300) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to spinal muscular atrophy type i (253300) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1081. en:allelic disorder to split-hand/foot malformation 4 (shfm4, 605289) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to split-hand/foot malformation 4 (shfm4, 605289) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1082. en:allelic disorder to stickler syndrome 3 (184840) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to stickler syndrome 3 (184840) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1083. en:allelic disorder to t cell-negative, b cell-negative, nk cell- negative scid (601457), which is more severe --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to t cell-negative, b cell-negative, nk cell- negative scid (601457), which is more severe | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1084. en:allelic disorder to the ivic syndrome (147750) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to the ivic syndrome (147750) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1085. en:allelic disorder to the zlotogora-ogur syndrome (225000) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to the zlotogora-ogur syndrome (225000) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1086. en:allelic disorder to type iv glycogen storage disease (232500) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to type iv glycogen storage disease (232500) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1087. en:allelic disorder to usher syndrome type 1f (602083) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to usher syndrome type 1f (602083) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1088. en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1089. en:allelic disorders with clinical overlap include dss and cmt1b (118200) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorders with clinical overlap include dss and cmt1b (118200) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1090. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1091. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1092. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1093. en:allelic disorders with overlapping phenotypes include congenital hypomyelinating neuropathy (chn, 605253) and dejerine-sottas syndrome (dss, 145900) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic disorders with overlapping phenotypes include congenital hypomyelinating neuropathy (chn, 605253) and dejerine-sottas syndrome (dss, 145900) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1094. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1095. 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:incidence of 1 in 250,000 births
    n1=en:allelic disorders with overlapping phenotypes include dss, congenital hypomyelination (chn, 605253), and some forms of axonal cmt2 (see 607677) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1096. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1097. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1098. en:allelic to acrocapitofemoral dysplasia (607778) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to acrocapitofemoral dysplasia (607778) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1099. en:allelic to acrokeratosis verruciformis (101900) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to acrokeratosis verruciformis (101900) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1100. 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:incidence of 1 in 250,000 births
    n1=en:allelic to acromesomelic dysplasia, hunter-thompson type (201250), brachydactyly, type c (113100), and fibular hypoplasia nd complex brachydactyly (228900) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1101. en:allelic to adult syndrome (103285), shfm4 (605289), hay-wells syndrome (106260), and limb-mammary syndrome (603543) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to adult syndrome (103285), shfm4 (605289), hay-wells syndrome (106260), and limb-mammary syndrome (603543) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1102. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1103. en:allelic to aicardi-goutieres syndrome (225750) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to aicardi-goutieres syndrome (225750) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1104. en:allelic to anterior segment mesenchymal dysgenesis (107250) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to anterior segment mesenchymal dysgenesis (107250) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1105. en:allelic to atelosteogenesis, type ii (256050), achondrogenesis, type ib (600972), and multiple epiphyseal dysplasia, type 4 (226900) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to atelosteogenesis, type ii (256050), achondrogenesis, type ib (600972), and multiple epiphyseal dysplasia, type 4 (226900) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1106. en:allelic to autosomal recessive pxe (264800) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to autosomal recessive pxe (264800) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1107. en:allelic to bannayan-riley-ruvalcaba syndrome (153480), which has an earlier age at onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to bannayan-riley-ruvalcaba syndrome (153480), which has an earlier age at onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1108. en:allelic to bardet-biedl syndrome 6 (209900) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to bardet-biedl syndrome 6 (209900) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1109. en:allelic to birt-hogg-dube syndrome (135150) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to birt-hogg-dube syndrome (135150) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1110. en:allelic to brachydactyly, type a1 (112500) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to brachydactyly, type a1 (112500) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1111. en:allelic to brachydactyly, type a2 (112600) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to brachydactyly, type a2 (112600) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1112. en:allelic to cartilage-hair hypoplasia (250250) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to cartilage-hair hypoplasia (250250) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1113. en:allelic to cowden disease (158350), which has a later age at onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to cowden disease (158350), which has a later age at onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1114. en:allelic to craniometaphyseal dysplasia (123000) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to craniometaphyseal dysplasia (123000) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1115. en:allelic to deafness, autosomal recessive 12 (601386) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to deafness, autosomal recessive 12 (601386) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1116. en:allelic to deafness, autosomal recessive 23 (609533) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to deafness, autosomal recessive 23 (609533) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1117. en:allelic to deafness, neurosensory, autosomal recessive 18 (602092) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to deafness, neurosensory, autosomal recessive 18 (602092) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1118. en:allelic to dentin dysplasia, type 2 (125420) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to dentin dysplasia, type 2 (125420) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1119. en:allelic to dentinogenesis imperfecta 1 (125490) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to dentinogenesis imperfecta 1 (125490) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1120. en:allelic to diastrophic dysplasia (222600), atelosteogenesis, type ii (256050), and achondrogenesis, type ib (600972) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to diastrophic dysplasia (222600), atelosteogenesis, type ii (256050), and achondrogenesis, type ib (600972) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1121. en:allelic to dyggve-melchior-clausen disease (223800) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to dyggve-melchior-clausen disease (223800) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1122. en:allelic to early-onset familial alzheimer disease (ad1, 104300) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to early-onset familial alzheimer disease (ad1, 104300) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1123. en:allelic to eec3 (604292), shfm4 (605289), adult syndrome (103285), limb-mammary syndrome (603543), and rapp-hodgkin syndrome (129400) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to eec3 (604292), shfm4 (605289), adult syndrome (103285), limb-mammary syndrome (603543), and rapp-hodgkin syndrome (129400) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1124. en:allelic to eec3 (604292), shfm4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and adult syndrome (103285) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to eec3 (604292), shfm4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and adult syndrome (103285) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1125. en:allelic to ellis-van creveld syndrome (225500) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to ellis-van creveld syndrome (225500) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1126. en:allelic to enhanced s-cone syndrome (268100) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to enhanced s-cone syndrome (268100) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1127. en:allelic to fechtner syndrome (153640), may-hegglin anomaly (155100), sebastian syndrome (605249), and epstein syndrome (153650) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to fechtner syndrome (153640), may-hegglin anomaly (155100), sebastian syndrome (605249), and epstein syndrome (153650) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1128. en:allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, 228930) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, 228930) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1129. en:allelic to giant platelet syndrome (231200) and bernard-soulier syndrome, benign, autosomal dominant (153670) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to giant platelet syndrome (231200) and bernard-soulier syndrome, benign, autosomal dominant (153670) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1130. en:allelic to grebe syndrome (200700), brachydactyly type c (113100), and acromesomelic dysplasia, hunter-thompson type (201250) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to grebe syndrome (200700), brachydactyly type c (113100), and acromesomelic dysplasia, hunter-thompson type (201250) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1131. en:allelic to grebe syndrome (200700), brachydactyly, type c (113100), fibular hypoplasia and complex brachydactyly (228900) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to grebe syndrome (200700), brachydactyly, type c (113100), fibular hypoplasia and complex brachydactyly (228900) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1132. en:allelic to grebe syndrome (200700), du pan syndrome (228900), and acromesomelic dysplasia, hunter thompson type (201250) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to grebe syndrome (200700), du pan syndrome (228900), and acromesomelic dysplasia, hunter thompson type (201250) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1133. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1134. en:allelic to hand osteoarthritis (607850) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to hand osteoarthritis (607850) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1135. en:allelic to hawkinsinuria (140350) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to hawkinsinuria (140350) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1136. en:allelic to hereditary multiple leiomyoma of skin (see 150800) and hereditary leiomyomatosis and renal cell cancer (150800) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to hereditary multiple leiomyoma of skin (see 150800) and hereditary leiomyomatosis and renal cell cancer (150800) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1137. en:allelic to hyperimmunoglobulinemia d syndrome (hids, 260920) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to hyperimmunoglobulinemia d syndrome (hids, 260920) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1138. en:allelic to infantile sialic acid storage disorder (269920) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to infantile sialic acid storage disorder (269920) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1139. en:allelic to joubert syndrome 5 (610188) and leber congenital amaurosis type x (610142) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to joubert syndrome 5 (610188) and leber congenital amaurosis type x (610142) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1140. en:allelic to kenny-caffey syndrome type 1 (244460) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to kenny-caffey syndrome type 1 (244460) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1141. en:allelic to kid syndrome (148210), dfna3 (601544), dfnb1 (220290), vohwinkel syndrome (124500), keratoderma, palmoplantar with deafness (148350) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to kid syndrome (148210), dfna3 (601544), dfnb1 (220290), vohwinkel syndrome (124500), keratoderma, palmoplantar with deafness (148350) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1142. en:allelic to leopard syndrome (151100) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to leopard syndrome (151100) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1143. en:allelic to leprechaunism (246200) and insulin-resistant diabetes mellitus with acanthosis nigricans (147670) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to leprechaunism (246200) and insulin-resistant diabetes mellitus with acanthosis nigricans (147670) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1144. en:allelic to marshall syndrome (154780) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to marshall syndrome (154780) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1145. en:allelic to may-hegglin anomaly (155100), fechtner syndrome (153640), epstein syndrome (153650) and deafness, autosomal dominant 17 (603622) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to may-hegglin anomaly (155100), fechtner syndrome (153640), epstein syndrome (153650) and deafness, autosomal dominant 17 (603622) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1146. en:allelic to may-heglin anomaly (155100), sebastian syndrome (605249), epstein syndrome (153650), and deafness, autosomal dominant 17 (603622) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to may-heglin anomaly (155100), sebastian syndrome (605249), epstein syndrome (153650), and deafness, autosomal dominant 17 (603622) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1147. en:allelic to mevalonic aciduria (610377) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to mevalonic aciduria (610377) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1148. en:allelic to mucolipidosis ii (252500) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to mucolipidosis ii (252500) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1149. en:allelic to mucopolysaccharidosis ivb --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to mucopolysaccharidosis ivb | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1150. en:allelic to multiple epiphyseal dysplasia, type 5 (607078) and hand osteoarthritis (607850) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to multiple epiphyseal dysplasia, type 5 (607078) and hand osteoarthritis (607850) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1151. en:allelic to multiple pterygium syndrome, lethal type (253290) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to multiple pterygium syndrome, lethal type (253290) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1152. 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:incidence of 1 in 250,000 births
    n1=en:allelic to multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1153. en:allelic to myosin storage myopathy (608358) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to myosin storage myopathy (608358) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1154. en:allelic to naxos disease (601214) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to naxos disease (601214) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1155. en:allelic to nephronophthisis 4 (606966) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to nephronophthisis 4 (606966) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1156. en:allelic to neurofibromatosis-1 (nf1, 162200) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to neurofibromatosis-1 (nf1, 162200) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1157. en:allelic to noonan syndrome (163950) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to noonan syndrome (163950) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1158. en:allelic to osmed (215150) and weissenbacher-zweymuller syndrome (277610) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to osmed (215150) and weissenbacher-zweymuller syndrome (277610) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1159. en:allelic to osteopetrosis (259700) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to osteopetrosis (259700) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1160. 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:incidence of 1 in 250,000 births
    n1=en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), autosomal dominant osteosclerosis (144750), type i osteopetrosis (607634) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1161. 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:incidence of 1 in 250,000 births
    n1=en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1162. en:allelic to pachyonychia congenita jackson-lawler type (167210) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to pachyonychia congenita jackson-lawler type (167210) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1163. en:allelic to papillon-lefevre syndrome (245000) and haim-munk syndrome (245010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to papillon-lefevre syndrome (245000) and haim-munk syndrome (245010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1164. en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1165. en:allelic to pendred syndrome, deafness with goiter (274600) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to pendred syndrome, deafness with goiter (274600) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1166. en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and stapes ankylosis syndrome without symphalangism (184460) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and stapes ankylosis syndrome without symphalangism (184460) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1167. en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and tarsal-carpal coalition syndrome (186570) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and tarsal-carpal coalition syndrome (186570) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1168. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1169. en:allelic to proximal symphalangism (185800), stapes ankylosis syndrome without symphalangism (184460), and tarsal-carpal coalition syndrome (186570) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to proximal symphalangism (185800), stapes ankylosis syndrome without symphalangism (184460), and tarsal-carpal coalition syndrome (186570) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1170. en:allelic to pseudoachondroplasia (177170) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to pseudoachondroplasia (177170) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1171. 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:incidence of 1 in 250,000 births
    n1=en:allelic to retinitis punctata albescens (136880), fundus albipunctatus (136880), autosomal recessive retinitis pigmentosa (268000), newfoundland rod-cone dystrophy (607476) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1172. en:allelic to rett syndrome (312750) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to rett syndrome (312750) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1173. en:allelic to roberts syndrome (268300) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to roberts syndrome (268300) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1174. en:allelic to robinow syndrome, autosomal recessive (268310) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to robinow syndrome, autosomal recessive (268310) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1175. en:allelic to senior-loken syndrome 1 (266900) and joubert syndrome 4 (609583) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to senior-loken syndrome 1 (266900) and joubert syndrome 4 (609583) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1176. en:allelic to senior-loken syndrome 4 (606996) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to senior-loken syndrome 4 (606996) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1177. en:allelic to senior-loken syndrome 6 (610189) and leber congenital amaurosis type x (610142) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to senior-loken syndrome 6 (610189) and leber congenital amaurosis type x (610142) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1178. en:allelic to several forms of autosomal recessive cmt (see 214400) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to several forms of autosomal recessive cmt (see 214400) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1179. en:allelic to sialuria, finnish type (604369) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to sialuria, finnish type (604369) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1180. en:allelic to spondyloepimetaphyseal dysplasia, matn-3 related (608728) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to spondyloepimetaphyseal dysplasia, matn-3 related (608728) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1181. en:allelic to stickler syndrome, type 3 (184840) and osmed (215150) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to stickler syndrome, type 3 (184840) and osmed (215150) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1182. en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1183. en:allelic to the less severe harp syndrome (607236), which is distinguished by the presence of hypobetalipoproteinemia and acanthocytosis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to the less severe harp syndrome (607236), which is distinguished by the presence of hypobetalipoproteinemia and acanthocytosis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1184. en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1185. en:allelic to trichorhinophalangeal syndrome, type iii (trps3, 190351) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to trichorhinophalangeal syndrome, type iii (trps3, 190351) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1186. en:allelic to trp1 (190350) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to trp1 (190350) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1187. en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1188. 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:incidence of 1 in 250,000 births
    n1=en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), type ii van buchem disease (607636), and high bone mass (601884) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1189. en:allelic to tyrosinemia, type iii (276720) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to tyrosinemia, type iii (276720) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1190. 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:incidence of 1 in 250,000 births
    n1=en:allelic to ulnar and fibula, absence of, with severe limb deficiency (al-awadi/raas-rothschild/schinzel phocomelia syndrome 276820) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1191. en:allelic to usher syndrome, type id (601067) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to usher syndrome, type id (601067) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1192. en:allelic to waardenburg syndrome, type iia (193510) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to waardenburg syndrome, type iia (193510) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1193. en:allelic to wiskott-aldrich syndrome (301000) and severe congenital x-linked neutropenia (300299) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to wiskott-aldrich syndrome (301000) and severe congenital x-linked neutropenia (300299) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1194. en:allelic to wiskott-aldrich syndrome (301000) and x-linked thrombocytopenia (313900) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic to wiskott-aldrich syndrome (301000) and x-linked thrombocytopenia (313900) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1195. en:allelic with cone-rod dystrophy 10 (610283) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic with cone-rod dystrophy 10 (610283) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1196. en:allelic with dentinogenesis imperfecta 1 (125490) and dentin dysplasia, type ii (125420) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic with dentinogenesis imperfecta 1 (125490) and dentin dysplasia, type ii (125420) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1197. en:allelic with retinitis pigmentosa 35 (610282) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic with retinitis pigmentosa 35 (610282) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1198. en:allelic with smith-mccort dysplasia (607326) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:allelic with smith-mccort dysplasia (607326) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1199. en:almost all patients require total parenteral nutrition --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:almost all patients require total parenteral nutrition | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1200. en:alopecia may spontaneously regress, become chronic, or spread diffusely --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:alopecia may spontaneously regress, become chronic, or spread diffusely | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1201. en:alopecia usually occurs around puberty --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:alopecia usually occurs around puberty | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1202. en:alpha thalassemia-mental retardation syndrome --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:alpha thalassemia-mental retardation syndrome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1203. en:alpha-l-iduronidase activity is <1% for all forms of mps1 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:alpha-l-iduronidase activity is <1% for all forms of mps1 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1204. en:also called 'heterozygous osmed' and 'autosomal dominant osmed' --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:also called 'heterozygous osmed' and 'autosomal dominant osmed' | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1205. en:alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1206. en:ambulation difficulty --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:ambulation difficulty | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1207. en:ambulation is preserved --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:ambulation is preserved | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1208. en:ambulation is usually maintained during adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:ambulation is usually maintained during adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1209. en:ambulation usually not achieved --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:ambulation usually not achieved | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1210. en:amelioration with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:amelioration with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1211. en:an autosomal recessive form has been reported (269720) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:an autosomal recessive form has been reported (269720) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1212. en:anemia does not respond to alpha-interferon treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:anemia does not respond to alpha-interferon treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1213. en:anemia is transfusion-dependent --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:anemia is transfusion-dependent | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1214. en:anemia may show favorable response to alpha-interferon treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:anemia may show favorable response to alpha-interferon treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1215. en:anemia may show onset in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:anemia may show onset in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1216. en:anemia, diabetes, and deafness often show onset at different ages --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:anemia, diabetes, and deafness often show onset at different ages | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1217. en:anesthesia complications include difficult intubation secondary to microstomia and risk of malignant hyperthermia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:anesthesia complications include difficult intubation secondary to microstomia and risk of malignant hyperthermia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1218. en:antenatal onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:antenatal onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1219. en:antibodies can develop after pregnancy or transfusion --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:antibodies can develop after pregnancy or transfusion | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1220. en:anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1221. en:anticonvulsants are effective one family of thai origin has been reported (last curated march 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:anticonvulsants are effective one family of thai origin has been reported (last curated march 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1222. en:apparent at birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:apparent at birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1223. en:apparent in newborn at birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:apparent in newborn at birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1224. en:appear normal at birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:appear normal at birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1225. en:approximately 10% of als cases are familial --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:approximately 10% of als cases are familial | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1226. en:approximately 12 patients have been reported (as of march 2010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:approximately 12 patients have been reported (as of march 2010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1227. en:approximately 25% have a severe course and die of respiratory failure --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:approximately 25% have a severe course and die of respiratory failure | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1228. en:approximately 35% of patients die during the first 2 years of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:approximately 35% of patients die during the first 2 years of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1229. en:approximately 40% of patients die within newborn period --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:approximately 40% of patients die within newborn period | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1230. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1231. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1232. en:approximately 50db loss in adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:approximately 50db loss in adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1233. en:approximately 60% of brrs patients have pten mutations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:approximately 60% of brrs patients have pten mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1234. en:approximately 60% of cases are due to somatic mutations and are unilateral --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:approximately 60% of cases are due to somatic mutations and are unilateral | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1235. en:approximately 80% of cs patients have pten mutations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:approximately 80% of cs patients have pten mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1236. en:approximately 85% of type ii patients are homozygous for a missense mutation m136t (102600.0003) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:approximately 85% of type ii patients are homozygous for a missense mutation m136t (102600.0003) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1237. en:approximately half of cases are due to de novo deletions --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:approximately half of cases are due to de novo deletions | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1238. en:approximately half of cases are due to unbalanced rearrangements, which may be familial --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:approximately half of cases are due to unbalanced rearrangements, which may be familial | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1239. en:approximately half of patients need ambulatory support after the fifth decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:approximately half of patients need ambulatory support after the fifth decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1240. en:approximately one-third of patients become seizure-free with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:approximately one-third of patients become seizure-free with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1241. en:aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1242. en:arrhythmias detected prenatally (in some patients) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:arrhythmias detected prenatally (in some patients) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1243. en:arteriovenous malformations can occur throughout the body --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:arteriovenous malformations can occur throughout the body | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1244. en:as of 2009, one family has been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:as of 2009, one family has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1245. en:as of 4/2011, 2 patients have been described in detail --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:as of 4/2011, 2 patients have been described in detail | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1246. en:associated specifically with the gba d409h mutation (606463.0006) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:associated specifically with the gba d409h mutation (606463.0006) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1247. en:associated with a balanced translocation t(12,22)(p11.2,q13.3) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:associated with a balanced translocation t(12,22)(p11.2,q13.3) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1248. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1249. en:associated with deletion at chromosome 2q37 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:associated with deletion at chromosome 2q37 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1250. en:associated with fragile x syndrome (300624) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:associated with fragile x syndrome (300624) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1251. en:associated with fragile x syndrome (309550) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:associated with fragile x syndrome (309550) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1252. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1253. en:associated with idiopathic generalized epilepsy (ige, 600669) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:associated with idiopathic generalized epilepsy (ige, 600669) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1254. en:associated with imprinting and epigenetic defects in the g-protein, alpha-stimulating 1 gene (gnas1, 139320) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:associated with imprinting and epigenetic defects in the g-protein, alpha-stimulating 1 gene (gnas1, 139320) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1255. en:associated with increased paternal age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:associated with increased paternal age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1256. en:associated with increasing age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:associated with increasing age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1257. en:associated with malignant hyperthermia (mhs, 145600) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:associated with malignant hyperthermia (mhs, 145600) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1258. en:associated with myoclonic epilepsy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:associated with myoclonic epilepsy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1259. en:associated with several congenital malformation syndromes (wagr 194072, beckwith-wiedemann syndrome 130650, abnormal urogenital development syndromes) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:associated with several congenital malformation syndromes (wagr 194072, beckwith-wiedemann syndrome 130650, abnormal urogenital development syndromes) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1260. 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:incidence of 1 in 250,000 births
    n1=en:associated with several loci on chromosomes 11p15 (wt2, 194071), 16 (wt3, 194090), 17 (wt4, 601363), and 7 (wt5, 601583). | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1261. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1262. en:associated with the tau (157140) h1 haplotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:associated with the tau (157140) h1 haplotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1263. en:associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1264. en:associated with tuberous sclerosis (191100) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:associated with tuberous sclerosis (191100) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1265. en:associated with untreated phenylketonuria (261600) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:associated with untreated phenylketonuria (261600) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1266. en:association between hla class ii alleles and presence of autoantibodies --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:association between hla class ii alleles and presence of autoantibodies | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1267. en:association of cardiac events with exercise --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:association of cardiac events with exercise | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1268. en:association with autoimmune diseases --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:association with autoimmune diseases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1269. 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:incidence of 1 in 250,000 births
    n1=en:association with the hla-drb1*1501-dqb1*0602 haplotype has been repeatedly demonstrated in high-risk (northern european) populations. | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1270. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1271. en:asymptomatic heterozygotes susceptible to lead toxicity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:asymptomatic heterozygotes susceptible to lead toxicity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1272. en:asymptomatic if papillary zone is spared --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:asymptomatic if papillary zone is spared | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1273. en:asymptomatic skin lesions begin on neck in third decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:asymptomatic skin lesions begin on neck in third decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1274. en:asymptomatic younger patients show characteristic basal ganglia calcifications --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:asymptomatic younger patients show characteristic basal ganglia calcifications | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1275. en:at birth, there is generalized red scaly skin --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:at birth, there is generalized red scaly skin | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1276. en:ataxia becomes evident at the end of the first year of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:ataxia becomes evident at the end of the first year of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1277. en:ataxia is slowly progressive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:ataxia is slowly progressive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1278. en:attack frequency may occur several times per week to once per year --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:attack frequency may occur several times per week to once per year | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1279. en:attacks are not responsive to acetazolamide --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:attacks are not responsive to acetazolamide | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1280. en:attacks may present during or after sleep --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:attacks may present during or after sleep | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1281. en:attacks often drug-induced --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:attacks often drug-induced | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1282. en:attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1283. en:attacks precipitated by drugs, alcohol, and endocrine factors (hcp) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:attacks precipitated by drugs, alcohol, and endocrine factors (hcp) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1284. en:attacks rarely occur before puberty (hcp) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:attacks rarely occur before puberty (hcp) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1285. en:attacks tend to decrease with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:attacks tend to decrease with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1286. en:attacks triggered by catabolic stress, such as fever or illness --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:attacks triggered by catabolic stress, such as fever or illness | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1287. en:attacks typically last for minutes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:attacks typically last for minutes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1288. en:atypical affected males, 'cardiac variants' 301500.0005 exist --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:atypical affected males, 'cardiac variants' 301500.0005 exist | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1289. en:atypical hemolytic-uremic syndrome shows onset in first 12 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:atypical hemolytic-uremic syndrome shows onset in first 12 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1290. en:atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1291. en:aura may occur --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:aura may occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1292. en:autonomic dysfunction usually precedes obvious neurologic deterioration --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autonomic dysfunction usually precedes obvious neurologic deterioration | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1293. en:autonomic symptoms occur with headaches --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autonomic symptoms occur with headaches | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1294. en:autosomal dominant (177000.0003) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal dominant (177000.0003) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1295. en:autosomal dominant and autosomal recessive forms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal dominant and autosomal recessive forms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1296. en:autosomal dominant dopa-responsive dystonia (dyt5, 128230) is an allelic disorder with overlapping features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal dominant dopa-responsive dystonia (dyt5, 128230) is an allelic disorder with overlapping features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1297. en:autosomal dominant inheritance has been rarely reported (187800) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal dominant inheritance has been rarely reported (187800) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1298. en:autosomal dominant inheritance has been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal dominant inheritance has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1299. en:autosomal dominant inheritance has been reported in a single family --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal dominant inheritance has been reported in a single family | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1300. en:autosomal dominant inheritance is more common --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal dominant inheritance is more common | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1301. en:autosomal dominant omodysplasia has also been described (164745) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal dominant omodysplasia has also been described (164745) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1302. en:autosomal dominant transmission has been rarely reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal dominant transmission has been rarely reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1303. en:autosomal dominant with complete penetrance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal dominant with complete penetrance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1304. en:autosomal dominant with incomplete penetrance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal dominant with incomplete penetrance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1305. en:autosomal recessive (177000.0006) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal recessive (177000.0006) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1306. en:autosomal recessive and dominant pedigrees described --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal recessive and dominant pedigrees described | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1307. en:autosomal recessive cases have been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal recessive cases have been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1308. en:autosomal recessive cases tend to have a more severe phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal recessive cases tend to have a more severe phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1309. en:autosomal recessive cytochrome b-negative cgd (233690) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal recessive cytochrome b-negative cgd (233690) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1310. en:autosomal recessive cytochrome b-positive cgd, type i --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal recessive cytochrome b-positive cgd, type i | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1311. en:autosomal recessive cytochrome b-positive cgd, type i (233700) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal recessive cytochrome b-positive cgd, type i (233700) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1312. en:autosomal recessive cytochrome b-positive cgd, type ii --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal recessive cytochrome b-positive cgd, type ii | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1313. en:autosomal recessive cytochrome b-positive cgd, type ii (233710) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal recessive cytochrome b-positive cgd, type ii (233710) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1314. en:autosomal recessive form (240220) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal recessive form (240220) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1315. en:autosomal recessive inheritance (245600) has also been suggested --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal recessive inheritance (245600) has also been suggested | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1316. en:autosomal recessive inheritance can occur --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal recessive inheritance can occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1317. en:autosomal recessive inheritance has also been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal recessive inheritance has also been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1318. en:autosomal recessive inheritance has been described in 2 families --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal recessive inheritance has been described in 2 families | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1319. en:autosomal recessive inheritance has been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal recessive inheritance has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1320. en:autosomal recessive inheritance has been reported (see 601253.0010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal recessive inheritance has been reported (see 601253.0010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1321. en:autosomal recessive inheritance has been reported in 1 case --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal recessive inheritance has been reported in 1 case | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1322. en:autosomal recessive inheritance has been reported in 1 family --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal recessive inheritance has been reported in 1 family | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1323. en:autosomal recessive inheritance has been reported in 1 family (as of april 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal recessive inheritance has been reported in 1 family (as of april 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1324. en:autosomal recessive inheritance has been suggested --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal recessive inheritance has been suggested | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1325. en:autosomal recessive inheritance in one family (see 603342.0010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal recessive inheritance in one family (see 603342.0010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1326. en:autosomal recessive inheritance is most common --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal recessive inheritance is most common | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1327. en:autosomal recessive inheritance with decreased penetrance (50%) is associated with a susceptibility locus on chromosome 10q26 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal recessive inheritance with decreased penetrance (50%) is associated with a susceptibility locus on chromosome 10q26 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1328. en:autosomal recessive inheritance with earlier onset has been suggested --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal recessive inheritance with earlier onset has been suggested | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1329. en:autosomal recessive omodysplasia has also been described (258315) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:autosomal recessive omodysplasia has also been described (258315) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1330. en:average age at death is 37 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:average age at death is 37 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1331. en:average age at onset 16.6 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:average age at onset 16.6 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1332. en:average age at onset 18 years (range 15 to 25 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:average age at onset 18 years (range 15 to 25 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1333. en:average age at onset 18.6 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:average age at onset 18.6 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1334. en:average age at onset 19 years (range 5 to 38) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:average age at onset 19 years (range 5 to 38) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1335. en:average age at onset 31 years (range 7 to 54) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:average age at onset 31 years (range 7 to 54) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1336. en:average age at onset 38 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:average age at onset 38 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1337. en:average age at onset 66 years although earlier onset may occur --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:average age at onset 66 years although earlier onset may occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1338. en:average age at onset is 24 years (range 4 to 58 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:average age at onset is 24 years (range 4 to 58 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1339. en:average age of onset 13 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:average age of onset 13 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1340. en:average age of onset 15 years (range 4 to 40) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:average age of onset 15 years (range 4 to 40) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1341. en:average age of onset 57 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:average age of onset 57 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1342. en:average age of onset 6 months (range birth - 2 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:average age of onset 6 months (range birth - 2 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1343. en:average duration of illness 8 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:average duration of illness 8 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1344. en:average onset 6 months (range 3-9) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:average onset 6 months (range 3-9) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1345. en:basal cell neoplasms develop after second decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:basal cell neoplasms develop after second decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1346. en:basal metabolic rate index:arbitrary concentration:point in time:^patient:quantitative --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:basal metabolic rate index:arbitrary concentration:point in time:^patient:quantitative | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1347. en:based on 1 5-generation family (last curated january 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on 1 5-generation family (last curated january 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1348. en:based on 1 family (last curated september 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on 1 family (last curated september 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1349. en:based on 1 patient with compound heterozygous mutation in ttc21b (last curated february 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on 1 patient with compound heterozygous mutation in ttc21b (last curated february 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1350. en:based on 1 report of monozygotic twins (last curated may 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on 1 report of monozygotic twins (last curated may 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1351. en:based on 1 reported family (last curated december 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on 1 reported family (last curated december 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1352. en:based on 1 reported family with oca6 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on 1 reported family with oca6 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1353. en:based on 1 reported patient (last curated november 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on 1 reported patient (last curated november 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1354. en:based on 1 uruguayan family (last curated april 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on 1 uruguayan family (last curated april 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1355. en:based on 2 families described with no mutations in the vitamin d receptor gene (vdr, 601769) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on 2 families described with no mutations in the vitamin d receptor gene (vdr, 601769) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1356. en:based on 2 patients from 1 consanguineous lebanese family (as of april 2010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on 2 patients from 1 consanguineous lebanese family (as of april 2010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1357. en:based on 2 reported patients (last curated january 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on 2 reported patients (last curated january 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1358. en:based on 2 reported patients, 1 male and 1 female (last curated august 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on 2 reported patients, 1 male and 1 female (last curated august 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1359. en:based on 2 reports of 3 patients (last curated september 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on 2 reports of 3 patients (last curated september 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1360. en:based on 2 siblings in 1 family (last curated september 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on 2 siblings in 1 family (last curated september 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1361. en:based on 2 unrelated chinese families (last curated july 2014). --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on 2 unrelated chinese families (last curated july 2014). | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1362. en:based on 3 patients from 2 families (last curated january 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on 3 patients from 2 families (last curated january 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1363. en:based on 4 patients in one family --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on 4 patients in one family | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1364. en:based on 4 reported patients (last curated april 2013) repeated first-trimester abortions in mothers of 2 probands --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on 4 reported patients (last curated april 2013) repeated first-trimester abortions in mothers of 2 probands | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1365. en:based on description of 1 family (last curated april 2006) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on description of 1 family (last curated april 2006) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1366. en:based on four patients in a four generation family --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on four patients in a four generation family | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1367. en:based on one finnish family --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on one finnish family | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1368. en:based on one patient (last curated february 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on one patient (last curated february 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1369. en:based on one report of a 4-generation family with 4 affected males and 6 affected females --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on one report of a 4-generation family with 4 affected males and 6 affected females | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1370. en:based on one report of brother and sister --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on one report of brother and sister | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1371. en:based on report of 1 3-generation family (last curated november 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on report of 1 3-generation family (last curated november 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1372. en:based on report of 1 consanguineous kurdish family with 4 affected sisters (last curated october 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on report of 1 consanguineous kurdish family with 4 affected sisters (last curated october 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1373. en:based on report of 1 consanguineous turkish family (last curated june 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on report of 1 consanguineous turkish family (last curated june 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1374. en:based on report of 1 family (last curated february 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on report of 1 family (last curated february 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1375. en:based on report of 1 family (last curated january 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on report of 1 family (last curated january 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1376. en:based on report of 1 family (last curated october 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on report of 1 family (last curated october 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1377. en:based on report of 1 japanese family (last curated november 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on report of 1 japanese family (last curated november 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1378. en:based on report of 1 saudi arabian family (last curated february 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on report of 1 saudi arabian family (last curated february 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1379. en:based on report of 2 consanguineous arab families (last curated november 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on report of 2 consanguineous arab families (last curated november 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1380. en:based on report of 2 families (last curated january 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on report of 2 families (last curated january 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1381. en:based on report of 2 individuals in 1 consanguineous family (last curated may 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on report of 2 individuals in 1 consanguineous family (last curated may 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1382. en:based on report of 2 patients with dhtkd1 mutation (last curated november 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on report of 2 patients with dhtkd1 mutation (last curated november 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1383. en:based on report of 2 siblings and 1 patient (last curated december 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on report of 2 siblings and 1 patient (last curated december 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1384. en:based on report of 2 sisters (last curated october 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on report of 2 sisters (last curated october 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1385. en:based on report of 5 brothers of arab-moslem descent (last curated february 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on report of 5 brothers of arab-moslem descent (last curated february 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1386. en:based on report of one consanguineous kuwaiti family (last curated december 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on report of one consanguineous kuwaiti family (last curated december 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1387. en:based on report of one polish roma patient (last curated november 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on report of one polish roma patient (last curated november 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1388. en:based on reports of one consanguineous saudi family and one consanguineous turkish family (last curated december 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on reports of one consanguineous saudi family and one consanguineous turkish family (last curated december 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1389. en:based on the report of one lebanese family (last curated october 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:based on the report of one lebanese family (last curated october 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1390. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1391. en:begins as focal dystonia, later becomes segmental or generalized --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:begins as focal dystonia, later becomes segmental or generalized | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1392. en:begins in feet and legs (peroneal distribution) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:begins in feet and legs (peroneal distribution) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1393. en:begins in hands or feet, later generalized --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:begins in hands or feet, later generalized | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1394. en:behavioral problems including stubbornness and rage --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:behavioral problems including stubbornness and rage | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1395. en:benign condition --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:benign condition | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1396. en:benign neonatal familial convulsions (see 601764, 121200, 121201, and 269720) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:benign neonatal familial convulsions (see 601764, 121200, 121201, and 269720) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1397. en:benign trait --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:benign trait | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1398. en:benign, asymptomatic defect --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:benign, asymptomatic defect | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1399. en:bethlem myopathy (158810) is an allelic disorder with a milder phenotype and autosomal dominant inheritance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:bethlem myopathy (158810) is an allelic disorder with a milder phenotype and autosomal dominant inheritance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1400. en:between 2 and 7% of children will develop afebrile seizure disorders later in life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:between 2 and 7% of children will develop afebrile seizure disorders later in life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1401. en:bilateral involvement in 10% of cases --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:bilateral involvement in 10% of cases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1402. en:bimodal age of onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:bimodal age of onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1403. en:bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1404. en:birth date:time stamp -- date and time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:birth date:time stamp -- date and time:point in time:^patient:quantitative | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1405. en:birth rate of 7.6 per 1,000,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:birth rate of 7.6 per 1,000,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1406. en:bleeding after trauma or surgery --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:bleeding after trauma or surgery | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1407. en:bleeding episodes occur early in life and may disappear with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:bleeding episodes occur early in life and may disappear with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1408. en:blindness episodes are not associated with fhm episodes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:blindness episodes are not associated with fhm episodes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1409. en:blistering and erosions tend to occur on extensor surfaces or over bony prominences --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:blistering and erosions tend to occur on extensor surfaces or over bony prominences | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1410. en:blistering becomes confined to the palms and soles with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:blistering becomes confined to the palms and soles with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1411. en:blistering frequency may decrease with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:blistering frequency may decrease with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1412. en:blistering tends to improve with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:blistering tends to improve with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1413. en:blood glucose monitor with integrated lancing/blood sample --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:blood glucose monitor with integrated lancing/blood sample | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1414. en:blood glucose monitor with integrated voice synthesizer --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:blood glucose monitor with integrated voice synthesizer | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1415. en:body habitus becomes apparent in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:body habitus becomes apparent in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1416. en:bone abnormalities improve with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:bone abnormalities improve with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1417. en:bone changes tend to develop after first decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:bone changes tend to develop after first decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1418. en:both autosomal dominant and autosomal recessive inheritance have been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:both autosomal dominant and autosomal recessive inheritance have been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1419. en:both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1420. en:both demyelinating and axonal features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:both demyelinating and axonal features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1421. en:both germline (familial) and somatic (sporadic) mutation in kit (164920) and pdgfra (173490) have been found --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:both germline (familial) and somatic (sporadic) mutation in kit (164920) and pdgfra (173490) have been found | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1422. en:both heterozygous and homozygous mutations have been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:both heterozygous and homozygous mutations have been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1423. en:both heterozygous and homozygous pax3 mutations have been found --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:both heterozygous and homozygous pax3 mutations have been found | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1424. en:both homozygous and heterozygous edn3 mutations have been found --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:both homozygous and heterozygous edn3 mutations have been found | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1425. en:both homozygous and heterozygous ednrb mutations have been found --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:both homozygous and heterozygous ednrb mutations have been found | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1426. en:both homozygous and heterozygous mutations in lrsam1 have been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:both homozygous and heterozygous mutations in lrsam1 have been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1427. en:both recessive and dominant inheritance have been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:both recessive and dominant inheritance have been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1428. en:both reported cases survived beyond infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:both reported cases survived beyond infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1429. en:brain anomalies variable --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:brain anomalies variable | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1430. en:brain mri abnormalities show improvement with time --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:brain mri abnormalities show improvement with time | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1431. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1432. en:brainstem, cerebellum, internal and external capsule, inner rim of the corpus callosum may show disease involvement on mri --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:brainstem, cerebellum, internal and external capsule, inner rim of the corpus callosum may show disease involvement on mri | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1433. en:breech position --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:breech position | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1434. en:broad range in severity of presentation in sibships --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:broad range in severity of presentation in sibships | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1435. en:bullae are located randomly in familial cases and apical in sporadic cases --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:bullae are located randomly in familial cases and apical in sporadic cases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1436. en:c10orf2 mutations account for approximately 35% of all peo cases --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:c10orf2 mutations account for approximately 35% of all peo cases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1437. en:c3hex (cis-3-hexen-1-ol) is commonly associated with sensory characteristics such as 'green' and 'grassy' --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:c3hex (cis-3-hexen-1-ol) is commonly associated with sensory characteristics such as 'green' and 'grassy' | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1438. en:can be asymptomatic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:can be asymptomatic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1439. en:can be categorized into 3 groups --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:can be categorized into 3 groups | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1440. en:can be caused by mutations in nuclear-encoded or mitochondrial-encoded genes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:can be caused by mutations in nuclear-encoded or mitochondrial-encoded genes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1441. en:can be effectively treated with n-carbamylglutamate --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:can be effectively treated with n-carbamylglutamate | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1442. en:can be slowly or rapidly progressive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:can be slowly or rapidly progressive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1443. en:can be treated by bone marrow transplantation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:can be treated by bone marrow transplantation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1444. en:can be treated with physiologic levels of 1,25-dihydroxyvitamin d3 or 1-alpha-hydroxyvitamin d3 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:can be treated with physiologic levels of 1,25-dihydroxyvitamin d3 or 1-alpha-hydroxyvitamin d3 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1445. en:candidiasis is restricted to nails of hands and feet --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:candidiasis is restricted to nails of hands and feet | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1446. en:candidiasis is usually the first symptom --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:candidiasis is usually the first symptom | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1447. en:capillary malformation are apparent at birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:capillary malformation are apparent at birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1448. en:cardiac arrest and sudden death may occur, even in early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:cardiac arrest and sudden death may occur, even in early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1449. en:cardiac failure at birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:cardiac failure at birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1450. en:cardiac features are observed in ~3% of cases --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:cardiac features are observed in ~3% of cases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1451. en:cardiac involvement occurs between 5 and 12 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:cardiac involvement occurs between 5 and 12 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1452. en:cardiac manifestations are often fatal --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:cardiac manifestations are often fatal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1453. en:cardiomyopathy may develop later in the disease --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:cardiomyopathy may develop later in the disease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1454. en:carnitine supplementation can prevent further episodes and declines in cardiac function --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:carnitine supplementation can prevent further episodes and declines in cardiac function | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1455. en:carrier female phenotype ranges from normal bone density with no fractures to early-onset osteoporosis and fractures --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:carrier female phenotype ranges from normal bone density with no fractures to early-onset osteoporosis and fractures | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1456. 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:incidence of 1 in 250,000 births
    n1=en:carrier females are less affected (short stature with rhizomelic shortening of limbs, mild body asymmetry, and mild mental retardation) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1457. en:carrier females are normal --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:carrier females are normal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1458. en:carrier females are unaffected --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:carrier females are unaffected | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1459. en:carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1460. en:carrier females have arthralgias in middle age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:carrier females have arthralgias in middle age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1461. en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography. --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography. | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1462. en:carrier females may develop intrahepatic cholestasis of pregnancy (icp, 147480) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:carrier females may develop intrahepatic cholestasis of pregnancy (icp, 147480) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1463. en:carrier females may have mild features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:carrier females may have mild features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1464. en:carrier females may present with postpartum hyperammonemia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:carrier females may present with postpartum hyperammonemia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1465. en:carrier females may show mild features, such as mild contractures, club feet, and intellectual disability --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:carrier females may show mild features, such as mild contractures, club feet, and intellectual disability | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1466. en:carrier females may show mild mental retardation or learning disabilities --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:carrier females may show mild mental retardation or learning disabilities | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1467. en:carrier females may show neuropsychologic impairment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:carrier females may show neuropsychologic impairment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1468. en:carrier females show no clinical phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:carrier females show no clinical phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1469. en:carrier frequency 1:1,000 in french-canadians in quebec --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:carrier frequency 1:1,000 in french-canadians in quebec | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1470. en:carrier frequency 1:200,000 in france --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:carrier frequency 1:200,000 in france | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1471. en:carrier frequency 1:700 in bukhara jewish populations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:carrier frequency 1:700 in bukhara jewish populations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1472. en:carrier frequency in finland 1/40 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:carrier frequency in finland 1/40 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1473. en:carrier frequency in finland is 1 in 230 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:carrier frequency in finland is 1 in 230 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1474. en:carrier males are unaffected except for psychiatric/behavioral abnormalities --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:carrier males are unaffected except for psychiatric/behavioral abnormalities | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1475. en:carrier mothers have urine biochemistry profiles identical to those of their sons --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:carrier mothers have urine biochemistry profiles identical to those of their sons | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1476. en:carrier rate of 1 in 11 among old order amish --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:carrier rate of 1 in 11 among old order amish | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1477. en:carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1478. en:cases reported in the old order amish and one japanese family (last curated april 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:cases reported in the old order amish and one japanese family (last curated april 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1479. 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:incidence of 1 in 250,000 births
    n1=en:cases reported include de novo deletions, interstitial deletions, and translocations involving only the terminal band of the reciprocal chromosome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1480. en:cataracts are progressive but may vary between eyes of an individual --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:cataracts are progressive but may vary between eyes of an individual | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1481. en:cataracts may be subclinical in some patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:cataracts may be subclinical in some patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1482. en:cataracts present at birth or develop in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:cataracts present at birth or develop in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1483. en:cataracts variably present at birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:cataracts variably present at birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1484. en:catshl is an acronym for camptodactyly, tall stature, scoliosis, and hearing loss --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:catshl is an acronym for camptodactyly, tall stature, scoliosis, and hearing loss | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1485. en:cause of death usually due to respiratory failure before adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:cause of death usually due to respiratory failure before adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1486. en:caused by 55-200 expanded trinucleotide repeats in the fmr1 gene (309550) referred to as a 'premutation' --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:caused by 55-200 expanded trinucleotide repeats in the fmr1 gene (309550) referred to as a 'premutation' | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1487. en:caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1488. en:caused by a defect in bile acid transport --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:caused by a defect in bile acid transport | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1489. en:caused by constitutive activation of the avpr2 receptor --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:caused by constitutive activation of the avpr2 receptor | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1490. en:caused by heterozygous germline mutation and second-hit somatic mutation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:caused by heterozygous germline mutation and second-hit somatic mutation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1491. 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:incidence of 1 in 250,000 births
    n1=en:caused by inactivating mutations in the parathyroid hormone receptor 1 gene, in contrast to jansen type metaphyseal chondrodysplasia, 156400 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1492. en:caused by inborn error in bile acid synthesis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:caused by inborn error in bile acid synthesis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1493. en:caused by inheritance of the mutation on the maternal allele (imprinting) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:caused by inheritance of the mutation on the maternal allele (imprinting) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1494. en:caused by paternally-inherited inactivating gnas1 mutations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:caused by paternally-inherited inactivating gnas1 mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1495. en:cayler cardiofacial syndrome was classically described as hypoplasia of the depressor anguli oris muscle and congenital heart defects --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:cayler cardiofacial syndrome was classically described as hypoplasia of the depressor anguli oris muscle and congenital heart defects | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1496. 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:incidence of 1 in 250,000 births
    n1=en:cdags is an acronym - craniosynostosis and clavicular hypoplasia, delayed closure of fontanel, anal anomalies, genitourinary malformations, and skin eruption | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1497. en:cells of origin are part of the diffuse neuroendocrine system (dnes) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:cells of origin are part of the diffuse neuroendocrine system (dnes) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1498. en:central apneic episodes may be fatal --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:central apneic episodes may be fatal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1499. en:central hypoventilation occurs late in the disease and is often fatal --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:central hypoventilation occurs late in the disease and is often fatal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1500. en:centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1501. en:cerebellar ataxia shows onset in young adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:cerebellar ataxia shows onset in young adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1502. en:chands is an acronym for curly hair, ankyloblepharon filiform, nail dysplasia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:chands is an acronym for curly hair, ankyloblepharon filiform, nail dysplasia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1503. en:changes more marked in hands than feet --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:changes more marked in hands than feet | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1504. en:characteristic face and body by age 2 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:characteristic face and body by age 2 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1505. en:characteristic facial features become more apparent with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:characteristic facial features become more apparent with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1506. en:characterized by calf weakness at onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:characterized by calf weakness at onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1507. en:charcot-marie-tooth disease type 2l (cmt2l, 608673) is an allelic disorder with an overlapping phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:charcot-marie-tooth disease type 2l (cmt2l, 608673) is an allelic disorder with an overlapping phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1508. en:charge acronym (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness, extremity abnormalities) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:charge acronym (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness, extremity abnormalities) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1509. en:cheerful disposition --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:cheerful disposition | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1510. en:child is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:child is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1511. en:childhood absence epilepsy (eca1 600131, eca2 607681, eca3 607682) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:childhood absence epilepsy (eca1 600131, eca2 607681, eca3 607682) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1512. en:childhood onset (average 4 to 6 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:childhood onset (average 4 to 6 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1513. en:childhood onset (range birth to 12 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:childhood onset (range birth to 12 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1514. en:childhood onset has been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:childhood onset has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1515. en:childhood onset has been reported in 1 family --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:childhood onset has been reported in 1 family | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1516. en:childhood onset may occur --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:childhood onset may occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1517. en:childhood onset rarely occurs --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:childhood onset rarely occurs | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1518. en:childhood or adolescent onset, protracted, with myopathy and neuropathy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:childhood or adolescent onset, protracted, with myopathy and neuropathy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1519. en:childhood or young adult onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:childhood or young adult onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1520. en:children rarely develop the disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:children rarely develop the disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1521. en:chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1522. en:chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1523. en:chromosomal hypersensitivity to ionizing radiation and alkylating agents --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:chromosomal hypersensitivity to ionizing radiation and alkylating agents | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1524. en:chromosome rearrangements gave been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:chromosome rearrangements gave been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1525. en:chronic disease --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:chronic disease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1526. en:chronic, relapsing condition --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:chronic, relapsing condition | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1527. en:citation:bib:pt:reference lab test:nar --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:citation:bib:pt:reference lab test:nar | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1528. en:classic hepatic form begins in first months of life with hepatic failure and death by age 5 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:classic hepatic form begins in first months of life with hepatic failure and death by age 5 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1529. en:classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1530. en:classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1531. en:classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1532. en:classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1533. en:classical form (type i), less severe with survival into adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:classical form (type i), less severe with survival into adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1534. en:clinical and biochemical abnormalities improve with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clinical and biochemical abnormalities improve with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1535. en:clinical and biochemical symptoms improved with oral administration of creatine monohydrate --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clinical and biochemical symptoms improved with oral administration of creatine monohydrate | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1536. en:clinical and pathologic features of both demyelinating and axonal cmt --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clinical and pathologic features of both demyelinating and axonal cmt | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1537. en:clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3' (611369) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3' (611369) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1538. en:clinical features based on 1 reported family (last curated august 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clinical features based on 1 reported family (last curated august 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1539. en:clinical features in females include mild mental retardation (80%), short stature (50%), prominent forehead, and coarse facies --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clinical features in females include mild mental retardation (80%), short stature (50%), prominent forehead, and coarse facies | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1540. en:clinical features may vary --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clinical features may vary | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1541. en:clinical heterogeneity of multiminicore disease (see 255320 and 607552) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clinical heterogeneity of multiminicore disease (see 255320 and 607552) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1542. en:clinical improvement after 2 to 3 weeks of supportive care --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clinical improvement after 2 to 3 weeks of supportive care | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1543. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1544. en:clinical manifestation ranges from mild, transient hypertension to hellp syndrome (hemolysis, elevated liver enzymes, and low platelets) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clinical manifestation ranges from mild, transient hypertension to hellp syndrome (hemolysis, elevated liver enzymes, and low platelets) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1545. 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:incidence of 1 in 250,000 births
    n1=en:clinical manifestations only occur if vel-negative individuals have anti-vel antibodies and are transfused with vel-positive blood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1546. en:clinical onset within first 2 years of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clinical onset within first 2 years of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1547. en:clinical overlap with charcot-marie-tooth disease type 2c (606071) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clinical overlap with charcot-marie-tooth disease type 2c (606071) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1548. en:clinical overlap with congenital hypomyelinating neuropathy (chn, 605253) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clinical overlap with congenital hypomyelinating neuropathy (chn, 605253) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1549. en:clinical overlap with dejerine-sottas syndrome (dss, 145900) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clinical overlap with dejerine-sottas syndrome (dss, 145900) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1550. en:clinical overlap with demyelinating charcot-marie-tooth disease type 1 (see cmt1b, 118200), but much more severe phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clinical overlap with demyelinating charcot-marie-tooth disease type 1 (see cmt1b, 118200), but much more severe phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1551. en:clinical overlap with distal hereditary motor neuropathy type vii (dhmn vii, 158580) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clinical overlap with distal hereditary motor neuropathy type vii (dhmn vii, 158580) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1552. en:clinical presentation varies --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clinical presentation varies | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1553. en:clinical severity varies --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clinical severity varies | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1554. en:clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1555. en:clinical variability --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clinical variability | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1556. en:clinical variability seen in waardenburg syndrome type 1 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clinical variability seen in waardenburg syndrome type 1 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1557. en:clinical variation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clinical variation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1558. en:clinically classified into classic, atypical, and intermediate phenotypes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clinically classified into classic, atypical, and intermediate phenotypes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1559. en:clinically mimics congenital torch infections (see 251290) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clinically mimics congenital torch infections (see 251290) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1560. en:clinically resembles spinal muscular atrophy-1 (sma1, 253300) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clinically resembles spinal muscular atrophy-1 (sma1, 253300) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1561. en:clinically similar to torsion dystonia-1 (dyt1, 128100) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clinically similar to torsion dystonia-1 (dyt1, 128100) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1562. en:clinically unaffected heterozygotes may show changes on electroretinography --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clinically unaffected heterozygotes may show changes on electroretinography | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1563. en:clonazepam and diazepam may be effective in preventing or lessening severity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clonazepam and diazepam may be effective in preventing or lessening severity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1564. en:clove - congenital lipomatous overgrowth, vascular malformations, and epidermal nevi --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clove - congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1565. en:clubfoot is bilateral in most patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:clubfoot is bilateral in most patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1566. 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:incidence of 1 in 250,000 births
    n1=en:coagulation specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1567. en:codas is an acronym for cerebral ocular dental auricular skeletal syndrome --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:codas is an acronym for cerebral ocular dental auricular skeletal syndrome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1568. en:codominant inheritance has been suggested --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:codominant inheritance has been suggested | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1569. en:colchicine treatment is not effective --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:colchicine treatment is not effective | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1570. en:cold temeratures exacerbate symptoms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:cold temeratures exacerbate symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1571. en:colorectal cancer develops by fourth decade in untreated patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:colorectal cancer develops by fourth decade in untreated patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1572. en:common (up to 7% of the population) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:common (up to 7% of the population) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1573. en:common in afrikaan population, south africa --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:common in afrikaan population, south africa | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1574. en:common in japan and other asian populations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:common in japan and other asian populations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1575. en:common in south african whites --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:common in south african whites | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1576. en:communication board, non-electronic augmentative or alternative communication device --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:communication board, non-electronic augmentative or alternative communication device | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1577. en:complement deficiency (e.g. c2 and c4 null alleles) are susceptible to developing sle --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:complement deficiency (e.g. c2 and c4 null alleles) are susceptible to developing sle | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1578. en:complementation group b (represented by single atypical patient) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:complementation group b (represented by single atypical patient) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1579. en:complementation group c (variant mliii, 252605) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:complementation group c (variant mliii, 252605) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1580. en:complementation groups - complementation group a (classic mliii, 252600) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:complementation groups - complementation group a (classic mliii, 252600) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1581. en:complete absence of melanin synthesis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:complete absence of melanin synthesis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1582. en:complete manifestation in males --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:complete manifestation in males | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1583. en:complete penetrance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:complete penetrance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1584. en:complete penetrance but extreme variability of phenotypic expression --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:complete penetrance but extreme variability of phenotypic expression | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1585. en:complete penetrance with variable expressivity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:complete penetrance with variable expressivity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1586. en:complete recovery upon treatment of hyperthyroidism --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:complete recovery upon treatment of hyperthyroidism | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1587. en:complicated and pure forms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:complicated and pure forms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1588. en:comprises several subtypes, including --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:comprises several subtypes, including | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1589. en:conduction defect is progressive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:conduction defect is progressive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1590. en:cone-shaped epiphyses usually not present before age 2 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:cone-shaped epiphyses usually not present before age 2 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1591. en:congenital - over 2,000 repeats --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:congenital - over 2,000 repeats | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1592. en:congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1593. en:congenital disorders --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:congenital disorders | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1594. en:congenital hypotonia from 8 to 12 months, then progressive spasticity resulting in contractures and spastic quadriplegia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:congenital hypotonia from 8 to 12 months, then progressive spasticity resulting in contractures and spastic quadriplegia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1595. en:congenital onset or onset before 2 years (prelingual) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:congenital onset or onset before 2 years (prelingual) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1596. en:connatal form (type ii), most severe with death in first decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:connatal form (type ii), most severe with death in first decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1597. en:considered a benign disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:considered a benign disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1598. en:considered a myeloproliferative disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:considered a myeloproliferative disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1599. en:considered a normal variant --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:considered a normal variant | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1600. en:considered part of a spectrum of leber hereditary optic atrophy (lhon, 535000) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:considered part of a spectrum of leber hereditary optic atrophy (lhon, 535000) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1601. en:considered to be a manifestation of the caudal regression syndrome --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:considered to be a manifestation of the caudal regression syndrome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1602. en:considered to be a severe form of gaucher disease type ii (230900) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:considered to be a severe form of gaucher disease type ii (230900) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1603. en:considered to be a variant of gaucher disease type iii (231000) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:considered to be a variant of gaucher disease type iii (231000) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1604. en:considered to be part of the spectrum of joubert syndrome (213300) and meckel syndrome (249000) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:considered to be part of the spectrum of joubert syndrome (213300) and meckel syndrome (249000) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1605. en:contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1606. en:contiguous gene deletion syndrome --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:contiguous gene deletion syndrome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1607. en:contiguous gene deletion syndrome (in most patients) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:contiguous gene deletion syndrome (in most patients) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1608. en:contiguous gene deletion syndrome at chromosome 6p --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:contiguous gene deletion syndrome at chromosome 6p | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1609. en:contiguous gene deletion syndrome of 5q31 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:contiguous gene deletion syndrome of 5q31 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1610. en:contiguous gene duplication syndrome --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:contiguous gene duplication syndrome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1611. en:contiguous gene syndrome --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:contiguous gene syndrome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1612. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1613. en:contractures most severe by midadolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:contractures most severe by midadolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1614. en:corneal diameter decreases with decreasing axial length --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:corneal diameter decreases with decreasing axial length | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1615. en:corneal steepening is proportional to the degree of axial foreshortening --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:corneal steepening is proportional to the degree of axial foreshortening | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1616. en:coronary artery disease or myocardial infarction in fifth or sixth decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:coronary artery disease or myocardial infarction in fifth or sixth decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1617. en:corrected by bone marrow transplantation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:corrected by bone marrow transplantation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1618. en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1619. 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:incidence of 1 in 250,000 births
    n1=en:crash is an acronym for corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus which encompasses all l1cam diseases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1620. en:crisis precipitated by high altitude exposure --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:crisis precipitated by high altitude exposure | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1621. en:currarino triad includes - hemisacrum, presacral mass (anterior meningocele, enteric cyst, and/or presacral teratoma) and anorectal anomalies --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:currarino triad includes - hemisacrum, presacral mass (anterior meningocele, enteric cyst, and/or presacral teratoma) and anorectal anomalies | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1622. en:cutaneous leiomyomas increase in number over time --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:cutaneous leiomyomas increase in number over time | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1623. en:cutaneous telangiectases often not evident until 20-30 years of age incidence 1 in 5,000-8,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:cutaneous telangiectases often not evident until 20-30 years of age incidence 1 in 5,000-8,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1624. en:cyclic vomiting syndrome plus (cvs+) is characterized by additional neuromuscular and/or visceral organ manifestations (as indicated above) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:cyclic vomiting syndrome plus (cvs+) is characterized by additional neuromuscular and/or visceral organ manifestations (as indicated above) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1625. en:cyp2d6 enzyme is located in the endoplasmic reticulum of the liver --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:cyp2d6 enzyme is located in the endoplasmic reticulum of the liver | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1626. en:cyp2d6 represents about 1% of total liver cytochrome p450 content --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:cyp2d6 represents about 1% of total liver cytochrome p450 content | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1627. en:d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1628. en:d-hus is usually familial --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:d-hus is usually familial | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1629. en:date of analysis:tmstp:pt:xxx:qn --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:date of analysis:tmstp:pt:xxx:qn | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1630. en:date of autopsy:date:pt:^patient:qn --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:date of autopsy:date:pt:^patient:qn | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1631. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1632. en:date reference lab test received:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:date reference lab test received:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1633. en:date reference lab test sent:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:date reference lab test sent:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1634. en:date ultrasound:date:pt:^patient:qn --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:date ultrasound:date:pt:^patient:qn | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1635. en:de novo deletions in 8% of patients (preferentially paternally derived) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:de novo deletions in 8% of patients (preferentially paternally derived) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1636. en:de novo mutation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:de novo mutation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1637. en:de novo mutation identified in some patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:de novo mutation identified in some patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1638. en:de novo mutation resulting in haploinsufficiency of eftud2 (603892) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:de novo mutation resulting in haploinsufficiency of eftud2 (603892) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1639. en:de novo mutations occur almost exclusively on the paternally derived x chromosome --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:de novo mutations occur almost exclusively on the paternally derived x chromosome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1640. en:deafness is presenting symptom --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:deafness is presenting symptom | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1641. en:death about 20 years after symptom onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death about 20 years after symptom onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1642. en:death at 10 to 15 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death at 10 to 15 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1643. en:death at 13 to 30 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death at 13 to 30 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1644. en:death at 20 to 40 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death at 20 to 40 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1645. en:death at birth or within first 2 years of life (severe form) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death at birth or within first 2 years of life (severe form) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1646. en:death before age 15 in iia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death before age 15 in iia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1647. en:death before age 3 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death before age 3 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1648. en:death between 2 years of age and young adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death between 2 years of age and young adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1649. en:death by age 15 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death by age 15 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1650. en:death by age 2 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death by age 2 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1651. en:death by age 3 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death by age 3 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1652. en:death by age 5 (infantile form) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death by age 5 (infantile form) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1653. en:death by age 6-7 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death by age 6-7 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1654. en:death can occur in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death can occur in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1655. en:death due to respiratory failure or infection --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death due to respiratory failure or infection | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1656. en:death frequent in severe infantile form --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death frequent in severe infantile form | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1657. en:death in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1658. en:death in childhood is frequent due to respiratory failure --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in childhood is frequent due to respiratory failure | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1659. en:death in childhood may occur --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in childhood may occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1660. en:death in childhood may occur due to infection --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in childhood may occur due to infection | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1661. en:death in childhood often results from respiratory insufficiency --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in childhood often results from respiratory insufficiency | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1662. en:death in childhood secondary to malabsorption --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in childhood secondary to malabsorption | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1663. en:death in early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1664. en:death in early childhood has been reported in some presumed homozygotes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in early childhood has been reported in some presumed homozygotes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1665. en:death in early infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in early infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1666. en:death in early infancy (in some patients) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in early infancy (in some patients) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1667. en:death in first months of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in first months of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1668. en:death in first weeks of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in first weeks of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1669. en:death in first-second decade of life secondary to cardio-respiratory compromise --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in first-second decade of life secondary to cardio-respiratory compromise | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1670. en:death in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1671. en:death in infancy (1 patient) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in infancy (1 patient) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1672. en:death in infancy common for patients with the classic neonatal form --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in infancy common for patients with the classic neonatal form | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1673. en:death in infancy due to hyperthermia or apnea --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in infancy due to hyperthermia or apnea | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1674. en:death in infancy in majority of patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in infancy in majority of patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1675. en:death in infancy secondary to kernicterus --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in infancy secondary to kernicterus | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1676. en:death in infancy secondary to pulmonary insufficiency --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in infancy secondary to pulmonary insufficiency | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1677. en:death in infancy without bone marrow transplantation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in infancy without bone marrow transplantation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1678. en:death in infancy, usually from sepsis, dehydration, or acidosis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in infancy, usually from sepsis, dehydration, or acidosis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1679. en:death in neonatal period --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in neonatal period | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1680. en:death in teens secondary to cardiac failure --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in teens secondary to cardiac failure | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1681. en:death in the fifth or sixth decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in the fifth or sixth decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1682. en:death in the first decade, usually from liver failure --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in the first decade, usually from liver failure | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1683. en:death in the mid-twenties --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in the mid-twenties | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1684. en:death in untreated children --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in untreated children | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1685. en:death in utero --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in utero | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1686. en:death in utero (30%) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in utero (30%) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1687. en:death in utero or as neonate --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in utero or as neonate | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1688. en:death in utero or early infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in utero or early infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1689. en:death in utero or in the perinatal period --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death in utero or in the perinatal period | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1690. en:death may occur in childhood due to respiratory failure --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death may occur in childhood due to respiratory failure | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1691. en:death may occur in early infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death may occur in early infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1692. en:death may occur in late childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death may occur in late childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1693. en:death may occur in the first decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death may occur in the first decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1694. en:death occurs 10 to 20 years after onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death occurs 10 to 20 years after onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1695. en:death occurs 5 to 10 years after onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death occurs 5 to 10 years after onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1696. en:death occurs before 12 months of age due to cardiorespiratory arrest --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death occurs before 12 months of age due to cardiorespiratory arrest | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1697. en:death occurs in second or third decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death occurs in second or third decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1698. en:death often before age 2 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death often before age 2 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1699. en:death often by age 2 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death often by age 2 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1700. en:death often in early infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death often in early infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1701. en:death often in first months of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death often in first months of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1702. en:death often in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death often in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1703. en:death often occurs during metabolic/acidotic crisis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death often occurs during metabolic/acidotic crisis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1704. en:death often occurs in the first decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death often occurs in the first decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1705. en:death often secondary to infectious disease --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death often secondary to infectious disease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1706. en:death often secondary to pneumonia or congestive heart failure --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death often secondary to pneumonia or congestive heart failure | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1707. en:death secondary to respiratory infection or failure --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death secondary to respiratory infection or failure | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1708. en:death secondary to respiratory insufficiency --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death secondary to respiratory insufficiency | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1709. en:death usually associated with cardiogenic shock preceded by arrhythmia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death usually associated with cardiogenic shock preceded by arrhythmia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1710. en:death usually by 1 year of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death usually by 1 year of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1711. en:death usually by age 10 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death usually by age 10 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1712. en:death usually by age 3 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death usually by age 3 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1713. en:death usually due to renal failure by average age 3 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death usually due to renal failure by average age 3 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1714. en:death usually due to respiratory failure --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death usually due to respiratory failure | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1715. en:death usually in early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death usually in early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1716. en:death usually in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death usually in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1717. en:death usually in infancy or early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death usually in infancy or early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1718. en:death usually in sixth decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death usually in sixth decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1719. en:death usually in teenage years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death usually in teenage years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1720. en:death usually in the first 2 years of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death usually in the first 2 years of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1721. en:death usually in the perinatal period --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death usually in the perinatal period | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1722. en:death usually occurs before 5th decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death usually occurs before 5th decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1723. en:death usually occurs by 12 months of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death usually occurs by 12 months of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1724. en:death usually occurs by age 2 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death usually occurs by age 2 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1725. en:death usually occurs in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death usually occurs in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1726. en:death usually occurs in early infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death usually occurs in early infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1727. en:death usually occurs in first decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death usually occurs in first decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1728. en:death usually occurs in infancy or childhood if untreated --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death usually occurs in infancy or childhood if untreated | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1729. en:death usually occurs in the first weeks to months of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death usually occurs in the first weeks to months of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1730. en:death usually within first 2 years of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death usually within first 2 years of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1731. en:death usually within first weeks of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death usually within first weeks of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1732. en:death usually within first year of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death usually within first year of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1733. en:death within 12 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death within 12 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1734. en:death within 6 years after onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death within 6 years after onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1735. en:death within first decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death within first decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1736. en:death within first months or years of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death within first months or years of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1737. en:death within first year of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death within first year of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1738. en:death within first year of life in 25% --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death within first year of life in 25% | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1739. en:death within several months if untreated --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:death within several months if untreated | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1740. en:decrease in seizure frequency in middle age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:decrease in seizure frequency in middle age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1741. en:decreased bilirubin concentration with phenobarbital administration --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:decreased bilirubin concentration with phenobarbital administration | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1742. en:decreased fertility --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:decreased fertility | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1743. en:decreased life expectancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:decreased life expectancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1744. en:decreased penetrance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:decreased penetrance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1745. en:defect in tetrahydrobiopterin (bh4) synthesis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:defect in tetrahydrobiopterin (bh4) synthesis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1746. en:defect in urocanic acid conversion to formiminoglutamic acid (figlu) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:defect in urocanic acid conversion to formiminoglutamic acid (figlu) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1747. en:definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1748. en:delayed psychomotor development apparent in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:delayed psychomotor development apparent in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1749. en:delayed separation of umbilical cord --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:delayed separation of umbilical cord | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1750. en:deleted region contains 4 genes that are not imprinted, tubgcp2 (608147), nipa1 (608145), nipa2 (608146), and cyfip1 (606322) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:deleted region contains 4 genes that are not imprinted, tubgcp2 (608147), nipa1 (608145), nipa2 (608146), and cyfip1 (606322) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1751. en:deletion sizes range from 287kb to 4.4mb --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:deletion sizes range from 287kb to 4.4mb | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1752. en:deletions in naip gene (600355) found in 18% of sma2 patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:deletions in naip gene (600355) found in 18% of sma2 patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1753. en:deletions in naip gene (600355) found in 18% of smaii patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:deletions in naip gene (600355) found in 18% of smaii patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1754. en:delta-f508 present in 70% of alleles --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:delta-f508 present in 70% of alleles | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1755. en:dermatitis resolves in offspring after zinc supplementation and/or weaning --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:dermatitis resolves in offspring after zinc supplementation and/or weaning | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1756. en:described in 3 unrelated infants (last curated january 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:described in 3 unrelated infants (last curated january 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1757. en:described in 6 japanese families --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:described in 6 japanese families | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1758. en:described in families from galicia, spain --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:described in families from galicia, spain | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1759. en:described in families from western japan --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:described in families from western japan | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1760. en:described in individuals of jewish bukharian descent --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:described in individuals of jewish bukharian descent | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1761. en:described in individuals of roma gypsy origin (founder mutation) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:described in individuals of roma gypsy origin (founder mutation) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1762. en:described in one 5-generation pakistani family (last curated april 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:described in one 5-generation pakistani family (last curated april 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1763. en:described in single afrikaner family --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:described in single afrikaner family | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1764. en:described predominantly in families from the philippines --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:described predominantly in families from the philippines | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1765. en:despite voluminous steatorrhea, patients' growth and overall state of health is good --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:despite voluminous steatorrhea, patients' growth and overall state of health is good | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1766. en:detected in 1/50,000 in neonatal screening programs --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:detected in 1/50,000 in neonatal screening programs | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1767. en:development of afebrile seizures later in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:development of afebrile seizures later in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1768. en:diabetes and anemia respond to high doses of thiamine supplementation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:diabetes and anemia respond to high doses of thiamine supplementation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1769. en:diabetes mellitus develops in adolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:diabetes mellitus develops in adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1770. en:diabetes status:prid:pt:^patient:nom --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:diabetes status:prid:pt:^patient:nom | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1771. en:diagnosed in second or third decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:diagnosed in second or third decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1772. en:diagnosis in early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:diagnosis in early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1773. en:diagnosis in the second decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:diagnosis in the second decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1774. en:diagnosis made if 3/7 defects are present --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:diagnosis made if 3/7 defects are present | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1775. en:diagnosis occurs between 23 and 33 weeks' gestation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:diagnosis occurs between 23 and 33 weeks' gestation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1776. en:diagnosis typically between age 10-20 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:diagnosis typically between age 10-20 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1777. en:diarrhea persists even with vigorous nursing --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:diarrhea persists even with vigorous nursing | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1778. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1779. en:diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1780. en:die at birth or shortly after birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:die at birth or shortly after birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1781. en:digenic form caused by heterozygous mutations in both nek1 (604588) and dyn2ch1 (603297) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:digenic form caused by heterozygous mutations in both nek1 (604588) and dyn2ch1 (603297) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1782. en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1783. en:digenic form type id/f caused by digenic mutation in the cdh23 (605516) and pcdh15 genes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:digenic form type id/f caused by digenic mutation in the cdh23 (605516) and pcdh15 genes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1784. en:digenic form type id/f caused by digenic mutation in the cdh23 and pcdh15 (605514) genes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:digenic form type id/f caused by digenic mutation in the cdh23 and pcdh15 (605514) genes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1785. en:dip is a pathologic diagnosis that may represent other disease entities --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:dip is a pathologic diagnosis that may represent other disease entities | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1786. en:disability by end of first decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:disability by end of first decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1787. en:disease complicated by recurrent sepsis in some patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:disease complicated by recurrent sepsis in some patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1788. en:disease course depends on age at onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:disease course depends on age at onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1789. en:disease exacerbation during summer due to heat --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:disease exacerbation during summer due to heat | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1790. en:disease is life-threatening if untreated --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:disease is life-threatening if untreated | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1791. en:disease usually progresses in a cephalocaudal direction --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:disease usually progresses in a cephalocaudal direction | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1792. 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:incidence of 1 in 250,000 births
    n1=en:disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1793. en:disorder is static for first 2 decades and then shows progression of movement disorders and further cognitive decline --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:disorder is static for first 2 decades and then shows progression of movement disorders and further cognitive decline | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1794. en:disorder may progress to involve a larger body area --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:disorder may progress to involve a larger body area | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1795. en:disorder usually remains stable over time --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:disorder usually remains stable over time | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1796. en:disorders with overlapping phenotypes can be caused by mutation in the keratin-14 gene (148066) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:disorders with overlapping phenotypes can be caused by mutation in the keratin-14 gene (148066) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1797. en:disproportionately short limbs often noted at birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:disproportionately short limbs often noted at birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1798. en:distinct disorder from acquired limb-girdle myasthenia (159400) and congenital limb-girdle myasthenia (254300) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:distinct disorder from acquired limb-girdle myasthenia (159400) and congenital limb-girdle myasthenia (254300) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1799. en:distinct disorder from acquired limb-girdle myasthenia (159400) and limb-girdle myasthenia with tubular aggregates (610542) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:distinct disorder from acquired limb-girdle myasthenia (159400) and limb-girdle myasthenia with tubular aggregates (610542) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1800. en:distinct disorder from autosomal dominant hyper ige syndrome (147060) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:distinct disorder from autosomal dominant hyper ige syndrome (147060) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1801. en:distinct disorder from familial erythrocytosis (ecyt1, 133100) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:distinct disorder from familial erythrocytosis (ecyt1, 133100) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1802. en:distinct disorder from familial limb-girdle myasthenia (254200) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:distinct disorder from familial limb-girdle myasthenia (254200) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1803. en:distinct disorder from galactosemia (230400) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:distinct disorder from galactosemia (230400) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1804. en:distinct disorder from hereditary neuropathy with liability to pressure palsies (hnpp, 162500) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:distinct disorder from hereditary neuropathy with liability to pressure palsies (hnpp, 162500) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1805. en:distinct disorder from marinesco-sjogren syndrome (mss, 248800) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:distinct disorder from marinesco-sjogren syndrome (mss, 248800) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1806. en:distinct disorder from myasthenia gravis (mg, 254200) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:distinct disorder from myasthenia gravis (mg, 254200) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1807. en:distinct disorder from parkinson disease (168600) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:distinct disorder from parkinson disease (168600) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1808. en:distinct disorder from reduced zinc in breast milk (608118) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:distinct disorder from reduced zinc in breast milk (608118) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1809. en:distinct disorder from transient neonatal hyperthyroidism due to maternal graves disease (see 275000) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:distinct disorder from transient neonatal hyperthyroidism due to maternal graves disease (see 275000) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1810. en:distinct from pili annulati (180600) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:distinct from pili annulati (180600) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1811. en:distinctive and stereotyped sequence of events --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:distinctive and stereotyped sequence of events | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1812. en:distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1813. en:distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1814. en:distribution of lesions may be generalized, palmoplantar, or acral --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:distribution of lesions may be generalized, palmoplantar, or acral | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1815. en:diurnal fluctuation of symptoms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:diurnal fluctuation of symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1816. en:diurnal fluctuation, more apparent in earlier years, later subsides --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:diurnal fluctuation, more apparent in earlier years, later subsides | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1817. en:does not lead to hepatic failure --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:does not lead to hepatic failure | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1818. en:does not result in renal failure --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:does not result in renal failure | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1819. en:door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1820. en:dopa-responsive rigidity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:dopa-responsive rigidity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1821. en:dopa-unresponsive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:dopa-unresponsive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1822. en:dramatic late catch-up growth occurs in adolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:dramatic late catch-up growth occurs in adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1823. en:duane anomaly is not always present --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:duane anomaly is not always present | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1824. en:due to lack of epidermal ridging, patients lack fingerprints --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:due to lack of epidermal ridging, patients lack fingerprints | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1825. en:duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1826. en:dysarthria, dysphonia, or cough precede onset of ataxia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:dysarthria, dysphonia, or cough precede onset of ataxia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1827. en:dyskinesia may be precipitated by alcohol, stress, or fatigue --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:dyskinesia may be precipitated by alcohol, stress, or fatigue | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1828. en:dyskinesia may occur in homozygotes (1 reported case) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:dyskinesia may occur in homozygotes (1 reported case) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1829. en:dyskinesias occur in a subset of patients later than seizures (6 to 12 months) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:dyskinesias occur in a subset of patients later than seizures (6 to 12 months) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1830. en:dysmorphic facial features are subtle --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:dysmorphic facial features are subtle | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1831. en:dysmorphic facial features are variable --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:dysmorphic facial features are variable | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1832. en:dysmorphic facial features may not be present --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:dysmorphic facial features may not be present | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1833. en:dysmorphic features are mild or variable --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:dysmorphic features are mild or variable | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1834. en:dysmorphic features are variable --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:dysmorphic features are variable | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1835. en:dysmorphic features were only reported in 1 patient --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:dysmorphic features were only reported in 1 patient | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1836. en:dystonia and seizures may persist after resolution of episodes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:dystonia and seizures may persist after resolution of episodes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1837. en:dystonia is usually focal or segmental --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:dystonia is usually focal or segmental | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1838. en:earlier onset associated with faster progression and shorter life span --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:earlier onset associated with faster progression and shorter life span | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1839. en:earlier onset associated with increased severity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:earlier onset associated with increased severity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1840. en:earlier onset is associated with more aggressive disease course --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:earlier onset is associated with more aggressive disease course | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1841. en:earlier onset is rare --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:earlier onset is rare | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1842. en:earlier onset may occur --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:earlier onset may occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1843. en:early age of onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early age of onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1844. en:early age of onset (approximately 45 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early age of onset (approximately 45 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1845. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1846. en:early age of onset, usually less than 3 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early age of onset, usually less than 3 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1847. en:early childhood onset (before age 5 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early childhood onset (before age 5 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1848. en:early death --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early death | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1849. en:early death (mean age 13 months) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early death (mean age 13 months) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1850. en:early death due to infection --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early death due to infection | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1851. en:early death from infection may occur --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early death from infection may occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1852. en:early death from respiratory failure may occur --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early death from respiratory failure may occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1853. en:early death in early adulthood often associated with diverticulitis and intestinal perforation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early death in early adulthood often associated with diverticulitis and intestinal perforation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1854. en:early death in patients with cloverleaf skull --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early death in patients with cloverleaf skull | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1855. en:early death in some patients due to cardiorespiratory involvement --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early death in some patients due to cardiorespiratory involvement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1856. en:early death in the first few weeks of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early death in the first few weeks of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1857. en:early death may occur due to infection --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early death may occur due to infection | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1858. en:early death often due to respiratory complications --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early death often due to respiratory complications | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1859. en:early death without bone marrow transplantation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early death without bone marrow transplantation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1860. en:early death without kidney transplant --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early death without kidney transplant | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1861. en:early death, usually before age 2 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early death, usually before age 2 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1862. en:early diagnosis and proper treatment with folate replacement therapy can avoid neurologic sequelae --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early diagnosis and proper treatment with folate replacement therapy can avoid neurologic sequelae | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1863. en:early diagnosis and treatment prevent many complications --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early diagnosis and treatment prevent many complications | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1864. en:early exhaustion on exertion --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early exhaustion on exertion | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1865. en:early lethality --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early lethality | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1866. en:early lethality in most cases --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early lethality in most cases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1867. en:early onset (1 month to 4 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early onset (1 month to 4 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1868. en:early onset (average 1 year) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early onset (average 1 year) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1869. en:early onset has rarely been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early onset has rarely been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1870. en:early onset in some patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early onset in some patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1871. en:early onset of peripheral neuropathy (mean 2.1 years, range 1 to 10 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early onset of peripheral neuropathy (mean 2.1 years, range 1 to 10 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1872. en:early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency (237300) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency (237300) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1873. en:early onset, between 35-60 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early onset, between 35-60 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1874. en:early treatment can reduce neurologic symptoms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early treatment can reduce neurologic symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1875. en:early-onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early-onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1876. en:early-onset associated with more severe course and early death --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early-onset associated with more severe course and early death | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1877. en:early-onset severe renal disease --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:early-onset severe renal disease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1878. en:echocardiogram and ophthalmologic examination normal --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:echocardiogram and ophthalmologic examination normal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1879. en:eight unrelated patients have been reported (as of september 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:eight unrelated patients have been reported (as of september 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1880. en:electrolyte imbalances can mimic renal bartter syndrome (601678) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:electrolyte imbalances can mimic renal bartter syndrome (601678) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1881. en:electroretinogram reduction as early as 4 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:electroretinogram reduction as early as 4 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1882. en:elevated afp can be seen in other disorders --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:elevated afp can be seen in other disorders | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1883. en:empiric risk for a sib of an affected child between 2 and 5% --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:empiric risk for a sib of an affected child between 2 and 5% | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1884. en:encephalopathic episodes associated with increased serum and csf lactate --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:encephalopathic episodes associated with increased serum and csf lactate | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1885. en:end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1886. en:end-stage renal failure in first decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:end-stage renal failure in first decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1887. en:end-stage renal failure in first or second decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:end-stage renal failure in first or second decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1888. en:endocrine abnormalities confined to kidney --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:endocrine abnormalities confined to kidney | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1889. en:endocrine defects evolve over time --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:endocrine defects evolve over time | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1890. 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:incidence of 1 in 250,000 births
    n1=en:endocrinologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1891. en:enterocolitis tends to remit with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:enterocolitis tends to remit with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1892. en:environmental triggers - cold and wet exposure --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:environmental triggers - cold and wet exposure | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1893. en:environmental triggers include (koebner's phenomenon), sunburn, hiv infection, beta-hemolytic streptococcal infection, certain medications, stress, and alcohol --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:environmental triggers include (koebner's phenomenon), sunburn, hiv infection, beta-hemolytic streptococcal infection, certain medications, stress, and alcohol | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1894. en:enzyme replacement therapy will help visceral manifestations but cannot cross blood-brain barrier, so will not help neurodegeneration --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:enzyme replacement therapy will help visceral manifestations but cannot cross blood-brain barrier, so will not help neurodegeneration | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1895. en:epilepsy with grand mal seizures on awakening (egma, 607628) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:epilepsy with grand mal seizures on awakening (egma, 607628) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1896. en:epiphyseal stippling is gone by 8 months of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:epiphyseal stippling is gone by 8 months of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1897. en:episode, syncopal --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:episode, syncopal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1898. en:episodes are followed by exhaustion and sleep --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:episodes are followed by exhaustion and sleep | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1899. en:episodes are triggered by fatigue, illness, or strenuous exercise --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:episodes are triggered by fatigue, illness, or strenuous exercise | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1900. en:episodes are triggered by hunger, fatigue, cold, stress --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:episodes are triggered by hunger, fatigue, cold, stress | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1901. en:episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1902. en:episodes last 1 to 2 days --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:episodes last 1 to 2 days | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1903. en:episodes last 2 days to 1 week --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:episodes last 2 days to 1 week | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1904. en:episodes last about 1.5 hours --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:episodes last about 1.5 hours | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1905. en:episodes may be precipitated by fear, unexpected noises, emotional responses, movement --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:episodes may be precipitated by fear, unexpected noises, emotional responses, movement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1906. en:episodes not triggered by alcohol, caffeine, or stress --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:episodes not triggered by alcohol, caffeine, or stress | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1907. en:episodes of fatigue or weakness (in some patients) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:episodes of fatigue or weakness (in some patients) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1908. en:episodes triggered by fasting, illness, fever --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:episodes triggered by fasting, illness, fever | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1909. en:episodes typically last 2 to 5 minutes and occur daily or several times per month --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:episodes typically last 2 to 5 minutes and occur daily or several times per month | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1910. en:episodes usually last 1 to 2 days --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:episodes usually last 1 to 2 days | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1911. en:episodic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:episodic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1912. en:episodic decompensation is usually triggered by illness --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:episodic decompensation is usually triggered by illness | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1913. en:episodic metabolic decompensation usually associated with illness --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:episodic metabolic decompensation usually associated with illness | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1914. en:erythema often triggered by sudden temperature change or emotional stress --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:erythema often triggered by sudden temperature change or emotional stress | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1915. en:estimated carrier frequency 1/100 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:estimated carrier frequency 1/100 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1916. en:estimated carrier frequency in charlevoix-saguenay region is 1/22 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:estimated carrier frequency in charlevoix-saguenay region is 1/22 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1917. en:estimated carrier frequency of 10-25% in yarmouth county, nova scotia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:estimated carrier frequency of 10-25% in yarmouth county, nova scotia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1918. en:estimated frequency 1.6 cases/10,000 live births --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:estimated frequency 1.6 cases/10,000 live births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1919. en:estimated frequency of 1 in 40,000 live births --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:estimated frequency of 1 in 40,000 live births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1920. en:estimated gene carrier frequency of 1 in 5,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:estimated gene carrier frequency of 1 in 5,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1921. en:estimated incidence 1/20,000 - 1/40,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:estimated incidence 1/20,000 - 1/40,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1922. en:estimated incidence of 1 in 17,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:estimated incidence of 1 in 17,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1923. en:estimated mutation carrier rate of 1 in 350 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:estimated mutation carrier rate of 1 in 350 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1924. en:estimated prevalence of 1 in 16,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:estimated prevalence of 1 in 16,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1925. en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k. --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k. | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1926. en:evidence of incomplete penetrance in one family --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:evidence of incomplete penetrance in one family | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1927. en:exacerbation at puberty --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:exacerbation at puberty | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1928. en:exacerbation during febrile episodes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:exacerbation during febrile episodes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1929. en:exacerbation following stress, decreased food intake, or alcohol use --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:exacerbation following stress, decreased food intake, or alcohol use | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1930. en:exacerbation of symptoms during or after pregnancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:exacerbation of symptoms during or after pregnancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1931. en:exacerbations during infection --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:exacerbations during infection | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1932. en:excessive posttraumatic blood loss --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:excessive posttraumatic blood loss | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1933. en:exercise intolerance often evident in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:exercise intolerance often evident in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1934. en:existence as a distinct entity is not confirmed --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:existence as a distinct entity is not confirmed | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1935. en:exon 7 of smn1 is absent in 95.6% of sma1 patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:exon 7 of smn1 is absent in 95.6% of sma1 patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1936. en:expression more severe in females than males, except for mosaic males --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:expression more severe in females than males, except for mosaic males | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1937. en:extracutaneous manifestations are variable --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:extracutaneous manifestations are variable | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1938. en:extreme clinical heterogeneity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:extreme clinical heterogeneity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1939. en:extreme phenotypic variability --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:extreme phenotypic variability | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1940. en:extremely variable phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:extremely variable phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1941. en:f syndrome (102510) has many overlapping features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:f syndrome (102510) has many overlapping features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1942. en:facial appearance becomes more apparent with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:facial appearance becomes more apparent with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1943. en:facial dysmorphic features may not be present and may become less apparent in adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:facial dysmorphic features may not be present and may become less apparent in adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1944. en:facial dysmorphism is age-related and alters substantially over time --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:facial dysmorphism is age-related and alters substantially over time | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1945. en:facial dysmorphism is uncommon --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:facial dysmorphism is uncommon | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1946. en:familial (10%) and isolated cases --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:familial (10%) and isolated cases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1947. en:familial cases are rare and show incomplete penetrance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:familial cases are rare and show incomplete penetrance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1948. en:familial form --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:familial form | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1949. en:familial form - constitutional deficiency of vwf-cleaving protease --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:familial form - constitutional deficiency of vwf-cleaving protease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1950. en:familial hemiplegic migraine-2 (fhm2, 602481) is an allelic disorder with an overlapping phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:familial hemiplegic migraine-2 (fhm2, 602481) is an allelic disorder with an overlapping phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1951. en:family history of sudden death, as early as fourth decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:family history of sudden death, as early as fourth decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1952. en:fasting status:acnc:pt:^patient:ord:reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:fasting status:acnc:pt:^patient:ord:reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1953. en:fat pads become less prominent with time --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:fat pads become less prominent with time | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1954. en:fatal if renal transplant is not performed --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:fatal if renal transplant is not performed | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1955. en:fatal in the neonatal period (in some patients) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:fatal in the neonatal period (in some patients) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1956. en:fatal multiorgan failure due to severe inflammatory response in some patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:fatal multiorgan failure due to severe inflammatory response in some patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1957. en:fatal outcome if untreated --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:fatal outcome if untreated | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1958. en:fatal without bone marrow transplantation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:fatal without bone marrow transplantation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1959. en:fatal without hematopoietic stem cell transplantation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:fatal without hematopoietic stem cell transplantation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1960. en:fatigue --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:fatigue | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1961. en:favorable initial response to l-dopa --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable initial response to l-dopa | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1962. en:favorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1963. en:favorable response of episodic attacks to acetazolamide --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response of episodic attacks to acetazolamide | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1964. en:favorable response to a ketogenic diet --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to a ketogenic diet | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1965. en:favorable response to acetylcholinesterase inhibitors --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to acetylcholinesterase inhibitors | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1966. en:favorable response to alcohol --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to alcohol | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1967. en:favorable response to alcohol in about 50% --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to alcohol in about 50% | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1968. en:favorable response to antibodies against tnf-alpha (tnfa, 191160) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to antibodies against tnf-alpha (tnfa, 191160) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1969. en:favorable response to anticholinesterase medication --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to anticholinesterase medication | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1970. en:favorable response to anticonvulsants --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to anticonvulsants | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1971. en:favorable response to bh4 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to bh4 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1972. en:favorable response to bh4 therapy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to bh4 therapy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1973. en:favorable response to clonazepam --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to clonazepam | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1974. en:favorable response to corticosteroid treatment (1 family) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to corticosteroid treatment (1 family) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1975. en:favorable response to flunarizine --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to flunarizine | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1976. en:favorable response to high-dose steroids --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to high-dose steroids | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1977. en:favorable response to hydroxychloroquine treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to hydroxychloroquine treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1978. en:favorable response to immunotherapy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to immunotherapy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1979. en:favorable response to intermittent, low-dose steroid therapy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to intermittent, low-dose steroid therapy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1980. en:favorable response to l-dopa --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to l-dopa | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1981. en:favorable response to l-dopa treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to l-dopa treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1982. en:favorable response to l-dopa without side effects --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to l-dopa without side effects | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1983. en:favorable response to oral bile acid therapy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to oral bile acid therapy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1984. en:favorable response to oral creatine treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to oral creatine treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1985. en:favorable response to rituxan (in some patients) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to rituxan (in some patients) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1986. en:favorable response to sodium chloride treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to sodium chloride treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1987. en:favorable response to spironolactone --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to spironolactone | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1988. en:favorable response to treatment with minocycline or azithromycin --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to treatment with minocycline or azithromycin | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1989. en:favorable response to treatment with riboflavin --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favorable response to treatment with riboflavin | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1990. en:favoring of fat and protein --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:favoring of fat and protein | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1991. en:features based on one australian/uk family with tmem98 mutation (last curated august 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:features based on one australian/uk family with tmem98 mutation (last curated august 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1992. en:features in addition to mental retardation are variable --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:features in addition to mental retardation are variable | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1993. en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1994. en:features intermediate between demyelinating cmt and axonal cmt --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:features intermediate between demyelinating cmt and axonal cmt | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1995. en:features may be bilateral (15/24) or left side (9/24) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:features may be bilateral (15/24) or left side (9/24) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1996. en:features occur episodically --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:features occur episodically | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1997. en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1998. en:features of pseudoxanthoma elasticum seen in later childhood in some surviving patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:features of pseudoxanthoma elasticum seen in later childhood in some surviving patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  1999. en:features usually appear during adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:features usually appear during adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2000. en:febrile attacks disappear in adulthood in some patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:febrile attacks disappear in adulthood in some patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2001. en:febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2002. en:febrile illness may precipitate attacks of weakness --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:febrile illness may precipitate attacks of weakness | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2003. en:febrile seizures remit by age 5 or 6 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:febrile seizures remit by age 5 or 6 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2004. en:febrile seizures show onset between 6 months and 3 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:febrile seizures show onset between 6 months and 3 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2005. en:feeding difficulties in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:feeding difficulties in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2006. en:feeding difficulties, including aspiration, ameliorate with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:feeding difficulties, including aspiration, ameliorate with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2007. en:feet are unaffected --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:feet are unaffected | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2008. en:female carriers are unaffected or show neuropsychiatric features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:female carriers are unaffected or show neuropsychiatric features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2009. en:female carriers experience significant clinical manifestations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:female carriers experience significant clinical manifestations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2010. en:female carriers may be less severely affected --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:female carriers may be less severely affected | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2011. en:female carriers may develop mild hearing loss as adults --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:female carriers may develop mild hearing loss as adults | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2012. en:female carriers may have asymptomatic proteinuria or hypercalciuria --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:female carriers may have asymptomatic proteinuria or hypercalciuria | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2013. en:female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2014. en:female carriers may have cardiac defects --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:female carriers may have cardiac defects | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2015. en:female carriers may have hearing loss --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:female carriers may have hearing loss | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2016. en:female carriers may have mild hearing impairment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:female carriers may have mild hearing impairment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2017. en:female carriers may have mild hearing impairment and/or mild signs of choroideremia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:female carriers may have mild hearing impairment and/or mild signs of choroideremia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2018. en:female carriers may have mild mental retardation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:female carriers may have mild mental retardation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2019. en:female carriers may have short stature and premature ovarian failure --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:female carriers may have short stature and premature ovarian failure | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2020. en:female carriers may have subtle manifestations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:female carriers may have subtle manifestations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2021. en:female carriers may show mild learning disabilities --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:female carriers may show mild learning disabilities | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2022. en:female carriers may show some manifestations, such as hearing impairment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:female carriers may show some manifestations, such as hearing impairment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2023. en:female mutation carriers have earlier age at onset compared to male mutation carriers --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:female mutation carriers have earlier age at onset compared to male mutation carriers | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2024. en:female mutations carriers have a milder phenotype, with myalgia, calf hypertrophy, or isolated increased serum creatine kinase --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:female mutations carriers have a milder phenotype, with myalgia, calf hypertrophy, or isolated increased serum creatine kinase | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2025. en:female predominance (4:1) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:female predominance (4:1) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2026. en:female preponderance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:female preponderance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2027. en:female to male ratio 5:1 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:female to male ratio 5:1 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2028. en:female to male ratio 8-13:1 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:female to male ratio 8-13:1 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2029. en:female to male ratio ranges from 2:1 to 4:1 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:female to male ratio ranges from 2:1 to 4:1 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2030. en:female to male ratio, 1:1 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:female to male ratio, 1:1 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2031. en:females are more often affected --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:females are more often affected | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2032. en:females are most often affected, but rare male cases have been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:females are most often affected, but rare male cases have been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2033. en:females carriers have more variable age at onset and severity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:females carriers have more variable age at onset and severity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2034. en:females demonstrate lyonization with corresponding phenotypic variation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:females demonstrate lyonization with corresponding phenotypic variation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2035. en:females have milder manifestations than males --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:females have milder manifestations than males | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2036. en:females may be unaffected or mildly affected --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:females may be unaffected or mildly affected | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2037. en:females more severely affected than males --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:females more severely affected than males | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2038. en:females tend to have earlier onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:females tend to have earlier onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2039. en:fetal death usually occurs --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:fetal death usually occurs | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2040. en:fever of unknown origin --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:fever of unknown origin | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2041. en:fever, muscle cramping, and poor feeding remit by age 2 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:fever, muscle cramping, and poor feeding remit by age 2 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2042. en:few patients with mild to moderate mental retardation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:few patients with mild to moderate mental retardation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2043. en:fifty percent of cases are sporadic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:fifty percent of cases are sporadic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2044. en:fifty percent of cases secondary to new mutations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:fifty percent of cases secondary to new mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2045. en:fifty-percent of individuals responsive to pyridoxine (vitamin b6) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:fifty-percent of individuals responsive to pyridoxine (vitamin b6) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2046. en:figure associated with report or note:-:point in time:^patient:- --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:figure associated with report or note:-:point in time:^patient:- | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2047. en:findings in muscle biopsy may be variable --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:findings in muscle biopsy may be variable | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2048. en:first described in acadian population of louisiana --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:first described in acadian population of louisiana | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2049. en:first described in gypsy group from bulgaria --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:first described in gypsy group from bulgaria | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2050. en:first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2051. en:first identified in individuals of cypriot origin --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:first identified in individuals of cypriot origin | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2052. en:first name:pn:pt:^guardian or legally authorized representative:nom --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:first name:pn:pt:^guardian or legally authorized representative:nom | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2053. en:fish can be used to detect deletions of 4p16.3, the critical region for the phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:fish can be used to detect deletions of 4p16.3, the critical region for the phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2054. en:five clinical variants of msud unassociated with genotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:five clinical variants of msud unassociated with genotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2055. en:five patients have been reported (as of 8/2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:five patients have been reported (as of 8/2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2056. en:five patients have been reported (as of april 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:five patients have been reported (as of april 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2057. en:five patients have been reported (as of june 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:five patients have been reported (as of june 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2058. en:five patients have been reported (last curated december 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:five patients have been reported (last curated december 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2059. en:five patients reported (as of march 2009) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:five patients reported (as of march 2009) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2060. en:five reported patients, all boys (as of july 2009) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:five reported patients, all boys (as of july 2009) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2061. en:five unrelated cases have been reported (as of march 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:five unrelated cases have been reported (as of march 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2062. en:five unrelated patients have been reported (as of december 2009) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:five unrelated patients have been reported (as of december 2009) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2063. en:five unrelated patients have been reported (last curated july 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:five unrelated patients have been reported (last curated july 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2064. en:five unrelated patients have been reported (nov. 2009) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:five unrelated patients have been reported (nov. 2009) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2065. en:flares triggered by viral infection, overexertion, stress --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:flares triggered by viral infection, overexertion, stress | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2066. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2067. en:flunarizine treatment may be beneficial --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:flunarizine treatment may be beneficial | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2068. en:fluoxetine therapy is effective --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:fluoxetine therapy is effective | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2069. en:focal or segmental onset in cranial-cervical area or upper limbs --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:focal or segmental onset in cranial-cervical area or upper limbs | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2070. en:following fever in infancy, muscular weakness and poor growth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:following fever in infancy, muscular weakness and poor growth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2071. en:food intolerance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:food intolerance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2072. en:food related behavioral problems include excessive appetite and obsession with eating --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:food related behavioral problems include excessive appetite and obsession with eating | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2073. en:foot dragging may appear in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:foot dragging may appear in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2074. en:for a similar phenotype with genital anomalies and disordered steroidogenesis see por deficiency (201750) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:for a similar phenotype with genital anomalies and disordered steroidogenesis see por deficiency (201750) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2075. en:for autosomal dominant forms of axonal neuropathy, see cmt2a (118210) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:for autosomal dominant forms of axonal neuropathy, see cmt2a (118210) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2076. en:for autosomal recessive forms, see cmt2b1 605588 and cmt2b2 605589 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:for autosomal recessive forms, see cmt2b1 605588 and cmt2b2 605589 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2077. en:for similar autosomal dominant form, see 162350 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:for similar autosomal dominant form, see 162350 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2078. en:for similar autosomal recessive form, see cln4 (204300) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:for similar autosomal recessive form, see cln4 (204300) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2079. en:forty percent of patients die in the first year --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:forty percent of patients die in the first year | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2080. en:found predominantly in the amish population --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:found predominantly in the amish population | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2081. en:founder effect in irish traveler population --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:founder effect in irish traveler population | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2082. en:founder effect in turkish families --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:founder effect in turkish families | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2083. en:four cases have been reported, all female --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four cases have been reported, all female | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2084. en:four clinical forms of krabbe disease --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four clinical forms of krabbe disease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2085. en:four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2086. en:four clinically indistinguishable biochemically distinct forms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four clinically indistinguishable biochemically distinct forms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2087. en:four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, 252900) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, 252900) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2088. en:four families have been reported (last curated june 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four families have been reported (last curated june 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2089. en:four families have been reported (last curated october 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four families have been reported (last curated october 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2090. en:four individual patients and 1 saudi family have been reported (as of february 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four individual patients and 1 saudi family have been reported (as of february 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2091. en:four major groups: early infantile, late infantile, juvenile, adult --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four major groups: early infantile, late infantile, juvenile, adult | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2092. en:four patients from 2 unrelated families have been reported (last curated april 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four patients from 2 unrelated families have been reported (last curated april 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2093. en:four patients from 3 families have been reported (last curated december 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four patients from 3 families have been reported (last curated december 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2094. en:four patients from 3 families have been reported (last curated february 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four patients from 3 families have been reported (last curated february 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2095. en:four patients from 3 families have been reported (last curated february 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four patients from 3 families have been reported (last curated february 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2096. en:four patients from 3 families have been reported (last curated september 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four patients from 3 families have been reported (last curated september 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2097. en:four patients from 3 unrelated families have been reported (last curated july 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four patients from 3 unrelated families have been reported (last curated july 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2098. en:four patients have been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four patients have been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2099. en:four patients have been reported (as of december 2009) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four patients have been reported (as of december 2009) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2100. en:four patients have been reported (as of july 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four patients have been reported (as of july 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2101. en:four patients have been reported (last curated june 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four patients have been reported (last curated june 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2102. en:four patients have been reported from pakistan (as of march 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four patients have been reported from pakistan (as of march 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2103. 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:incidence of 1 in 250,000 births
    n1=en:four patients of canadian cree origin and 1 patient of turkish origin have been reported (last curated november 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2104. en:four patients reported (last curated april 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four patients reported (last curated april 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2105. en:four types of cgd with basically identical clinical phenotypes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four types of cgd with basically identical clinical phenotypes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2106. en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2107. en:four unrelated families have been reported (last curated february 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four unrelated families have been reported (last curated february 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2108. en:four unrelated families of caucasian european descent have been reported (last curated february 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four unrelated families of caucasian european descent have been reported (last curated february 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2109. en:four unrelated infants with the disorder and decreased expression of csf2rb in cells have been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four unrelated infants with the disorder and decreased expression of csf2rb in cells have been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2110. en:four unrelated patients have been reported (last curated august 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four unrelated patients have been reported (last curated august 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2111. en:four unrelated patients have been reported (last curated january 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four unrelated patients have been reported (last curated january 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2112. en:four unrelated patients with zswim6 mutations have been described (last curated september 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:four unrelated patients with zswim6 mutations have been described (last curated september 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2113. en:fracture frequency constant through childhood, decreases after puberty --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:fracture frequency constant through childhood, decreases after puberty | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2114. en:fracture frequency increases after menopause and in men ages 60-80 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:fracture frequency increases after menopause and in men ages 60-80 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2115. en:fractures occur in first few months, then decrease in frequency and then occur with ambulation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:fractures occur in first few months, then decrease in frequency and then occur with ambulation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2116. en:fractures often heal without deformity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:fractures often heal without deformity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2117. en:frequency 1/100,000 - 1/130,000 live births --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:frequency 1/100,000 - 1/130,000 live births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2118. en:frequency and severity of seizures tends to decrease with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:frequency and severity of seizures tends to decrease with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2119. en:frequency between 1 in 58,000 to 1 in 1,000,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:frequency between 1 in 58,000 to 1 in 1,000,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2120. en:frequency increases with advancing age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:frequency increases with advancing age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2121. en:frequency of attack, monthly - bimonthly --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:frequency of attack, monthly - bimonthly | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2122. en:frequency of attacks may decrease with age or during pregnancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:frequency of attacks may decrease with age or during pregnancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2123. en:frequency of episodes ranges from several per week to several per year --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:frequency of episodes ranges from several per week to several per year | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2124. en:frequent falls --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:frequent falls | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2125. en:frequent neonatal sudden death --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:frequent neonatal sudden death | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2126. en:frequent new mutations (~60%) and/or gonadal mosaicism in tsc2 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:frequent new mutations (~60%) and/or gonadal mosaicism in tsc2 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2127. en:frequent new mutations (~86%) and/or gonadal mosaicism in tsc1 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:frequent new mutations (~86%) and/or gonadal mosaicism in tsc1 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2128. en:frequently death in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:frequently death in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2129. en:frequently fatal within the first year of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:frequently fatal within the first year of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2130. en:frequently occurs in navajo children, especially in western reservations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:frequently occurs in navajo children, especially in western reservations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2131. en:frontometaphyseal dysplasia (fmd, 305620) is an allelic disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:frontometaphyseal dysplasia (fmd, 305620) is an allelic disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2132. en:full mutations with expanded trinucleotide repeats greater than 200 result in fragile x mental retardation syndrome (300624) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:full mutations with expanded trinucleotide repeats greater than 200 result in fragile x mental retardation syndrome (300624) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2133. en:gait difficulties and beginning of cognitive decline in first decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:gait difficulties and beginning of cognitive decline in first decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2134. en:gapo is acronym for growth retardation, alopecia, pseudoanodontia, optic atrophy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:gapo is acronym for growth retardation, alopecia, pseudoanodontia, optic atrophy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2135. en:gastrointestinal anomalies are not always present --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:gastrointestinal anomalies are not always present | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2136. en:gei (gene-environment interaction) - association of cardiac events with drug administration --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:gei (gene-environment interaction) - association of cardiac events with drug administration | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2137. en:gene frequency in northwest puerto rico 1 in 18 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:gene frequency in northwest puerto rico 1 in 18 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2138. en:generalized dystonia in some cases --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:generalized dystonia in some cases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2139. en:generalized fatigue --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:generalized fatigue | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2140. en:generally benign disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:generally benign disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2141. en:generally considered to be a benign disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:generally considered to be a benign disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2142. en:generally mild phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:generally mild phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2143. en:generally static disease course --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:generally static disease course | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2144. en:genetic anticipation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic anticipation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2145. en:genetic anticipation associated with progressive telomere shortening --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic anticipation associated with progressive telomere shortening | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2146. en:genetic anticipation has been observed --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic anticipation has been observed | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2147. en:genetic anticipation occurs --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic anticipation occurs | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2148. en:genetic heterogeneity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2149. en:genetic heterogeneity (autosomal recessive form 224900 and autosomal dominant form 129490) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (autosomal recessive form 224900 and autosomal dominant form 129490) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2150. en:genetic heterogeneity (bor2, 610896) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (bor2, 610896) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2151. en:genetic heterogeneity (ccm2 603284, ccm3 603285) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (ccm2 603284, ccm3 603285) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2152. en:genetic heterogeneity (see 125800) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see 125800) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2153. en:genetic heterogeneity (see 145410) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see 145410) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2154. en:genetic heterogeneity (see 157640) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see 157640) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2155. en:genetic heterogeneity (see 159900) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see 159900) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2156. en:genetic heterogeneity (see 161400) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see 161400) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2157. en:genetic heterogeneity (see 166600) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see 166600) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2158. en:genetic heterogeneity (see 191100) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see 191100) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2159. en:genetic heterogeneity (see 192600) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see 192600) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2160. en:genetic heterogeneity (see 209850) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see 209850) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2161. en:genetic heterogeneity (see 213300) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see 213300) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2162. en:genetic heterogeneity (see 214300) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see 214300) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2163. en:genetic heterogeneity (see 259700) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see 259700) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2164. en:genetic heterogeneity (see 266900 for summary) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see 266900 for summary) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2165. en:genetic heterogeneity (see 304800) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see 304800) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2166. en:genetic heterogeneity (see 601680) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see 601680) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2167. en:genetic heterogeneity (see 604559) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see 604559) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2168. en:genetic heterogeneity (see 606215) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see 606215) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2169. en:genetic heterogeneity (see 607634) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see 607634) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2170. en:genetic heterogeneity (see 608638) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see 608638) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2171. en:genetic heterogeneity (see 610168) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see 610168) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2172. en:genetic heterogeneity (see 613254) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see 613254) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2173. en:genetic heterogeneity (see antenatal bartter syndrome type 1, 601678) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see antenatal bartter syndrome type 1, 601678) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2174. en:genetic heterogeneity (see antenatal bartter syndrome type 2, 241200) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see antenatal bartter syndrome type 2, 241200) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2175. en:genetic heterogeneity (see bafme1, 601068) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see bafme1, 601068) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2176. en:genetic heterogeneity (see bafme2, 607876) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see bafme2, 607876) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2177. en:genetic heterogeneity (see bfic2, 605751) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see bfic2, 605751) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2178. en:genetic heterogeneity (see bscl1, 608594) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see bscl1, 608594) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2179. en:genetic heterogeneity (see bscl2, 269700) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see bscl2, 269700) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2180. en:genetic heterogeneity (see cftd1, 255310) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see cftd1, 255310) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2181. en:genetic heterogeneity (see cms1a1, 605809) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see cms1a1, 605809) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2182. en:genetic heterogeneity (see cms1a2, 254210) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see cms1a2, 254210) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2183. en:genetic heterogeneity (see cmt1a 118220, cmt1c 601098, cmt1d 607678, cmt1f 607734) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see cmt1a 118220, cmt1c 601098, cmt1d 607678, cmt1f 607734) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2184. en:genetic heterogeneity (see cmt1b 118200) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see cmt1b 118200) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2185. en:genetic heterogeneity (see cmt2a 118210) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see cmt2a 118210) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2186. en:genetic heterogeneity (see cmt2a2 609260, cmt2b 600882, cmt2c 606071, cmt2d 601472, cmt2e 607684, cmt2f 606595, cmt2i 607677) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see cmt2a2 609260, cmt2b 600882, cmt2c 606071, cmt2d 601472, cmt2e 607684, cmt2f 606595, cmt2i 607677) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2187. en:genetic heterogeneity (see cmt2b2, 605589) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see cmt2b2, 605589) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2188. en:genetic heterogeneity (see cmt4a 214400) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see cmt4a 214400) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2189. en:genetic heterogeneity (see cmt4b1, 601382) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see cmt4b1, 601382) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2190. en:genetic heterogeneity (see cmt4b2, 604563) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see cmt4b2, 604563) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2191. en:genetic heterogeneity (see cmtdia 606483) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see cmtdia 606483) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2192. en:genetic heterogeneity (see cnc2, 605244) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see cnc2, 605244) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2193. en:genetic heterogeneity (see coxpd1, 609060) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see coxpd1, 609060) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2194. en:genetic heterogeneity (see ebn2 121201, ebn3 608217) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see ebn2 121201, ebn3 608217) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2195. en:genetic heterogeneity (see eca1, 600131 and eca3, 607682) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see eca1, 600131 and eca3, 607682) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2196. en:genetic heterogeneity (see edm1 132400, edm2 600204, edm3 600969, edm4 226900) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see edm1 132400, edm2 600204, edm3 600969, edm4 226900) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2197. en:genetic heterogeneity (see edm1 132400, edm2 600204, edm4 226900, edm5 607078) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see edm1 132400, edm2 600204, edm4 226900, edm5 607078) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2198. en:genetic heterogeneity (see edm1 132400, edm3 600969, edm4 226900, edm5 607078) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see edm1 132400, edm3 600969, edm4 226900, edm5 607078) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2199. en:genetic heterogeneity (see edm2 600204, edm3 600969, edm4 226900, edm5 607078) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see edm2 600204, edm3 600969, edm4 226900, edm5 607078) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2200. en:genetic heterogeneity (see enfl1, 600513) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see enfl1, 600513) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2201. en:genetic heterogeneity (see etl2, 608096) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see etl2, 608096) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2202. en:genetic heterogeneity (see feb1 121210) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see feb1 121210) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2203. en:genetic heterogeneity (see fhm1 141500 and mgr6 607516) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see fhm1 141500 and mgr6 607516) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2204. en:genetic heterogeneity (see gefs+, 604233) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see gefs+, 604233) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2205. en:genetic heterogeneity (see hcfp1, 601471) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see hcfp1, 601471) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2206. en:genetic heterogeneity (see hcfp2, 604185) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see hcfp2, 604185) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2207. en:genetic heterogeneity (see hhf1 256450) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see hhf1 256450) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2208. en:genetic heterogeneity (see hht1, 187300) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see hht1, 187300) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2209. en:genetic heterogeneity (see jbts1 213300, jbts2 608091, jbts3 608629) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see jbts1 213300, jbts2 608091, jbts3 608629) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2210. en:genetic heterogeneity (see lgmd1a 159000 for overview) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see lgmd1a 159000 for overview) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2211. en:genetic heterogeneity (see lqt1 192500) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see lqt1 192500) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2212. en:genetic heterogeneity (see mada, 248370) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see mada, 248370) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2213. en:genetic heterogeneity (see madb, 608612) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see madb, 608612) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2214. en:genetic heterogeneity (see mcc2 deficiency 210210) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see mcc2 deficiency 210210) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2215. en:genetic heterogeneity (see mks2 603194 and mks3 607361) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see mks2 603194 and mks3 607361) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2216. en:genetic heterogeneity (see npc1, 257220) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see npc1, 257220) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2217. en:genetic heterogeneity (see npc2, 607625) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see npc2, 607625) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2218. en:genetic heterogeneity (see ofc1, 119530) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see ofc1, 119530) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2219. en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2220. en:genetic heterogeneity (see pfic1, 211600) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see pfic1, 211600) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2221. en:genetic heterogeneity (see pfm1, 168500) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see pfm1, 168500) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2222. en:genetic heterogeneity (see ppr2, 609572 and ppr3, 609573) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see ppr2, 609572 and ppr3, 609573) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2223. en:genetic heterogeneity (see psnp1 601104) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see psnp1 601104) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2224. en:genetic heterogeneity (see psnp2 609454) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see psnp2 609454) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2225. en:genetic heterogeneity (see rieg2, 601499) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see rieg2, 601499) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2226. en:genetic heterogeneity (see rls2, 608831) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see rls2, 608831) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2227. en:genetic heterogeneity (see rmd, 606072) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see rmd, 606072) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2228. en:genetic heterogeneity (see rmd1, 600332) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see rmd1, 600332) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2229. en:genetic heterogeneity (see sca1, 164000) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see sca1, 164000) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2230. en:genetic heterogeneity (see spondyloarthropathy, susceptibility to, 2 183840) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see spondyloarthropathy, susceptibility to, 2 183840) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2231. en:genetic heterogeneity (see, e.g., 600795, 105550) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see, e.g., 600795, 105550) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2232. en:genetic heterogeneity (see, e.g., 608631, 300494, 300497) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see, e.g., 608631, 300494, 300497) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2233. en:genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2234. en:genetic heterogeneity (see, e.g., atfb1, 608583) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see, e.g., atfb1, 608583) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2235. en:genetic heterogeneity (see, e.g., atfb3, 607554) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see, e.g., atfb3, 607554) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2236. en:genetic heterogeneity (see, e.g., cmtdib 606482, cmtdid 607791) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see, e.g., cmtdib 606482, cmtdid 607791) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2237. en:genetic heterogeneity (see, e.g., cockayne syndrome type b, 133540) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see, e.g., cockayne syndrome type b, 133540) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2238. en:genetic heterogeneity (see, e.g., nys1 310700, nys2 164100, nys4 193003) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see, e.g., nys1 310700, nys2 164100, nys4 193003) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2239. en:genetic heterogeneity (see, e.g., sli1 606711 and sli3 607134) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (see, e.g., sli1 606711 and sli3 607134) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2240. en:genetic heterogeneity (sli2 606712, sli3 607134) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (sli2 606712, sli3 607134) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2241. en:genetic heterogeneity (x-linked form 305100) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity (x-linked form 305100) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2242. en:genetic heterogeneity for phenotypically similar disorders with specific language impairment (sli1 606711, sli2 606712, sli3 607134) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity for phenotypically similar disorders with specific language impairment (sli1 606711, sli2 606712, sli3 607134) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2243. en:genetic heterogeneity of axonal cmt (see cmt2a 118210) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity of axonal cmt (see cmt2a 118210) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2244. en:genetic heterogeneity of waardenburg syndrome type 2 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity of waardenburg syndrome type 2 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2245. en:genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2246. en:genetic heterogeneity, see (203300) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity, see (203300) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2247. en:genetic heterogeneity, see ags2 (610181), ags3 (610329), and ags4 (610333) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity, see ags2 (610181), ags3 (610329), and ags4 (610333) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2248. en:genetic heterogeneity, see also pfic2 (601847), pfic3 (602347) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity, see also pfic2 (601847), pfic3 (602347) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2249. en:genetic heterogeneity, see apmr1 (203650) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity, see apmr1 (203650) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2250. en:genetic heterogeneity, see aprm2 (610422) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity, see aprm2 (610422) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2251. en:genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2252. en:genetic heterogeneity, see bos2 (120502) and bos3 (608389) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity, see bos2 (120502) and bos3 (608389) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2253. en:genetic heterogeneity, see cild1 (244400) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity, see cild1 (244400) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2254. en:genetic heterogeneity, see edm1 (132400), edm2 (600204), edm3 (600969), and edm5 (607078) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity, see edm1 (132400), edm2 (600204), edm3 (600969), and edm5 (607078) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2255. en:genetic heterogeneity, see ekd1 (128200) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity, see ekd1 (128200) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2256. en:genetic heterogeneity, see evr1 (133780) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity, see evr1 (133780) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2257. en:genetic heterogeneity, see evr2 (305390), evr3 (605750), and evr4 (601813) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity, see evr2 (305390), evr3 (605750), and evr4 (601813) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2258. en:genetic heterogeneity, see fhm1 141500 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity, see fhm1 141500 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2259. en:genetic heterogeneity, see fhm1, (141500) and mgr1, (157300) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity, see fhm1, (141500) and mgr1, (157300) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2260. en:genetic heterogeneity, see lgmd2a (253600) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity, see lgmd2a (253600) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2261. en:genetic heterogeneity, see mgr1 (157300) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity, see mgr1 (157300) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2262. en:genetic heterogeneity, see mitochondrial inheritance of the disorder (500003) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity, see mitochondrial inheritance of the disorder (500003) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2263. en:genetic heterogeneity, see ppnad1 (610489) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity, see ppnad1 (610489) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2264. en:genetic heterogeneity, see ppnad2 (610475) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity, see ppnad2 (610475) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2265. en:genetic heterogeneity, see sca1 (164400) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity, see sca1 (164400) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2266. en:genetic heterogeneity, see spg3a (182600) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity, see spg3a (182600) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2267. en:genetic heterogeneity, see spg5a (270800) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity, see spg5a (270800) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2268. en:genetic heterogeneity, see spg5a (270800) for overview of recessive spgs --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity, see spg5a (270800) for overview of recessive spgs | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2269. en:genetic heterogeneity, see, e.g., mgr2 (300125), mgr3 (607498), mgr4 (607501), mgr5 (607508), mgr6 (607516) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity, see, e.g., mgr2 (300125), mgr3 (607498), mgr4 (607501), mgr5 (607508), mgr6 (607516) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2270. en:genetic heterogeneity, some patients not linked to fgfr3 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:genetic heterogeneity, some patients not linked to fgfr3 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2271. 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:incidence of 1 in 250,000 births
    n1=en:geneticist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2272. en:germline and somatic mutations contribute to this disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:germline and somatic mutations contribute to this disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2273. en:germline or somatic mutations may cause the disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:germline or somatic mutations may cause the disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2274. en:gestational age:time:pt:^fetus:qn:amniocentesis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:gestational age:time:pt:^fetus:qn:amniocentesis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2275. en:gliomas may occur in association with other hereditary tumor syndromes (see 276300, 155755, 162200, 101000, 191100) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:gliomas may occur in association with other hereditary tumor syndromes (see 276300, 155755, 162200, 101000, 191100) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2276. en:global developmental delay --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:global developmental delay | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2277. en:gms is goniodysgenesis, mental deficiency, and short stature --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:gms is goniodysgenesis, mental deficiency, and short stature | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2278. en:gonadal mosaicism may occur --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:gonadal mosaicism may occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2279. en:gonadal mosaicism reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:gonadal mosaicism reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2280. en:good response to clonazepam --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:good response to clonazepam | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2281. en:good response to fibrinolytic inhibitors --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:good response to fibrinolytic inhibitors | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2282. en:good response to gaba-enhancing medications --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:good response to gaba-enhancing medications | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2283. en:good response to immunotherapy (intravenous igg or plasmapheresis) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:good response to immunotherapy (intravenous igg or plasmapheresis) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2284. en:good response to l-dopa initially --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:good response to l-dopa initially | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2285. en:good response to medication --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:good response to medication | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2286. en:good response to phosphate treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:good response to phosphate treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2287. en:good response to vitamin b12 therapy 'variant 1' has isolated homocystinuria and decreased mecbl --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:good response to vitamin b12 therapy 'variant 1' has isolated homocystinuria and decreased mecbl | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2288. en:good response to vitamin d treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:good response to vitamin d treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2289. en:good seizure control with medication --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:good seizure control with medication | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2290. en:gradual progression of hearing loss --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:gradual progression of hearing loss | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2291. en:gradual spontaneous improvement in the first year of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:gradual spontaneous improvement in the first year of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2292. en:greater expression in females --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:greater expression in females | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2293. en:green color resolves if cholestasis is treated --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:green color resolves if cholestasis is treated | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2294. en:green jaundice occurs only in the context of liver failure or obstructive cholestasis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:green jaundice occurs only in the context of liver failure or obstructive cholestasis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2295. en:griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2296. en:group a patients die in the first years of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:group a patients die in the first years of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2297. en:group a, found in north american indians, has lactic acidosis and psychomotor retardation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:group a, found in north american indians, has lactic acidosis and psychomotor retardation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2298. en:group b patients die by 3 months of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:group b patients die by 3 months of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2299. en:group b, found in france and united kingdom, severe phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:group b, found in france and united kingdom, severe phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2300. en:group c is relatively benign --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:group c is relatively benign | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2301. en:growth retardation onset in utero --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:growth retardation onset in utero | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2302. en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2303. en:hair loss begins in first years of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hair loss begins in first years of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2304. en:hair may normalize at puberty --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hair may normalize at puberty | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2305. en:hair phenotype present at birth and involves entire scalp region --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hair phenotype present at birth and involves entire scalp region | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2306. en:hair tends to straighten by 2nd-3rd decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hair tends to straighten by 2nd-3rd decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2307. en:hair, nails, and teeth are normal --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hair, nails, and teeth are normal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2308. en:half (50%) of affected patients have a recurrent episode with worse outcome --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:half (50%) of affected patients have a recurrent episode with worse outcome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2309. en:half of cases show retarded head circumference equal to height retardation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:half of cases show retarded head circumference equal to height retardation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2310. en:hand involvement improves with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hand involvement improves with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2311. en:haploinsufficiency of grn (138945) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:haploinsufficiency of grn (138945) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2312. en:haploinsufficiency of rps14 (130620) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:haploinsufficiency of rps14 (130620) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2313. en:has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2314. en:has been described in patients of caucasus jewish origin --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:has been described in patients of caucasus jewish origin | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2315. en:headache duration 4-72 hours --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:headache duration 4-72 hours | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2316. en:headaches last hours to days --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:headaches last hours to days | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2317. en:health data repository:id:pt:repository:nom --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:health data repository:id:pt:repository:nom | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2318. en:health insurance plan benefits comment:finding:point in time:^patient:narrative --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:health insurance plan benefits comment:finding:point in time:^patient:narrative | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2319. en:hearing impairment may improve with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hearing impairment may improve with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2320. en:hearing loss and hoarseness occur later --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hearing loss and hoarseness occur later | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2321. en:hearing loss and ocular findings are variable --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hearing loss and ocular findings are variable | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2322. en:hearing loss is pre- or perilingual in onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hearing loss is pre- or perilingual in onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2323. en:hearing loss is variable --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hearing loss is variable | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2324. en:hearing loss may be stable or progressive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hearing loss may be stable or progressive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2325. en:hearing loss typically begins between 3 and 4 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hearing loss typically begins between 3 and 4 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2326. en:hemolysis may be exercise-induced --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hemolysis may be exercise-induced | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2327. en:hepatoerythropoietic porphyria (hep, 176100.0005) is a severe infantile form due to homozygous pct --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hepatoerythropoietic porphyria (hep, 176100.0005) is a severe infantile form due to homozygous pct | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2328. en:hernia occurs in 22% of adults --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hernia occurs in 22% of adults | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2329. en:heterogeneous disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:heterogeneous disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2330. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2331. en:heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% x-ray changes only, 4% non-penetrant --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% x-ray changes only, 4% non-penetrant | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2332. en:heterozygotes are usually asymptomatic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygotes are usually asymptomatic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2333. en:heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2334. en:heterozygotes have half-normal levels of apob-containing lipoproteins --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygotes have half-normal levels of apob-containing lipoproteins | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2335. en:heterozygotes have mild, transient hypothyroidism in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygotes have mild, transient hypothyroidism in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2336. 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:incidence of 1 in 250,000 births
    n1=en:heterozygotes have milder metabolic defect with increased serum 1,25(oh)2d3 and hypercalciuria, but no bone disease or rickets | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2337. en:heterozygotes have plasma levels of triglycerides and/or hdl cholesterol that are intermediate between homozygotes and unaffected individuals --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygotes have plasma levels of triglycerides and/or hdl cholesterol that are intermediate between homozygotes and unaffected individuals | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2338. en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2339. en:heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (235400) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (235400) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2340. en:heterozygous carriers have an increased risk of metabolic dysfunction --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygous carriers have an increased risk of metabolic dysfunction | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2341. en:heterozygous carriers have decreased blood pressure compared to the general population --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygous carriers have decreased blood pressure compared to the general population | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2342. en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2343. en:heterozygous females have milder thyroid phenotype and no neurologic abnormalities --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygous females have milder thyroid phenotype and no neurologic abnormalities | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2344. en:heterozygous females may have gout and/or sensorineural deafness --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygous females may have gout and/or sensorineural deafness | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2345. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2346. en:heterozygous mutation carriers may show mild symptoms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygous mutation carriers may show mild symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2347. en:heterozygous mutation carriers show toxicity to 5-fluorouracil (5fu) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygous mutation carriers show toxicity to 5-fluorouracil (5fu) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2348. en:heterozygous mutation present in 5-7% of the japanese population --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygous mutation present in 5-7% of the japanese population | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2349. en:heterozygous mutations reported, see 606609.0006 and 606609.0007 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygous mutations reported, see 606609.0006 and 606609.0007 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2350. en:heterozygous parents are phenotypically normal but their cells show premature chromatid separation trait (pcs, 176430) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygous parents are phenotypically normal but their cells show premature chromatid separation trait (pcs, 176430) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2351. en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2352. en:heterozygous, homozygous, and compound heterozygous coq2 mutations have been identified --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:heterozygous, homozygous, and compound heterozygous coq2 mutations have been identified | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2353. en:hhs is a more severe variant, often resulting in death in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hhs is a more severe variant, often resulting in death in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2354. en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2355. en:high disease prevalence among french-canadians --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:high disease prevalence among french-canadians | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2356. en:high early mortality rate if untreated --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:high early mortality rate if untreated | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2357. en:high frequency among french-canadians --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:high frequency among french-canadians | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2358. en:high frequency among individuals of ashkenazi jewish descent (1 in 3,300) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:high frequency among individuals of ashkenazi jewish descent (1 in 3,300) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2359. en:high frequency in equatorial africa --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:high frequency in equatorial africa | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2360. en:high frequency in finnish population --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:high frequency in finnish population | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2361. en:high frequency in hutterite population --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:high frequency in hutterite population | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2362. en:high frequency in japan (2 in 20,000, 0.1%) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:high frequency in japan (2 in 20,000, 0.1%) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2363. en:high frequency in southern india (7% of all epilepsies) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:high frequency in southern india (7% of all epilepsies) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2364. en:high frequency in the french-canadian population --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:high frequency in the french-canadian population | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2365. en:high frequency in tibetan individuals --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:high frequency in tibetan individuals | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2366. en:high frequency of de novo mutations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:high frequency of de novo mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2367. en:high frequency seizures --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:high frequency seizures | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2368. en:high incidence among ashkenazi jews --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:high incidence among ashkenazi jews | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2369. en:high incidence among old order amish --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:high incidence among old order amish | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2370. en:high incidence in iraqis and sephardic jewish individuals --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:high incidence in iraqis and sephardic jewish individuals | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2371. en:high incidence in saguenay-lac st. jean region of the province of quebec, canada and northern europe --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:high incidence in saguenay-lac st. jean region of the province of quebec, canada and northern europe | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2372. en:high incidence in sweden and finland --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:high incidence in sweden and finland | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2373. en:high incidence of diabetes mellitus noted in opll patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:high incidence of diabetes mellitus noted in opll patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2374. en:high incidence of e. coli sepsis in untreated neonates --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:high incidence of e. coli sepsis in untreated neonates | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2375. en:high intrafamilial and interfamilial variability --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:high intrafamilial and interfamilial variability | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2376. en:high occurrence of de novo mutations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:high occurrence of de novo mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2377. en:high prevalence among individuals of middle eastern or african descent --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:high prevalence among individuals of middle eastern or african descent | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2378. en:high prevalence in charlevoix-saguenay region of northeastern quebec --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:high prevalence in charlevoix-saguenay region of northeastern quebec | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2379. en:high prevalence in holguin province of cuba --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:high prevalence in holguin province of cuba | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2380. en:high prevalence in japan --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:high prevalence in japan | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2381. en:high prevalence in the east asian population --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:high prevalence in the east asian population | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2382. en:high risk of death in infancy due to cardiac failure --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:high risk of death in infancy due to cardiac failure | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2383. en:higher than expected incidence in identical twins --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:higher than expected incidence in identical twins | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2384. en:highest incidence in men of european descent --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:highest incidence in men of european descent | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2385. en:highly variable age at onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:highly variable age at onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2386. en:highly variable clinical and immunologic phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:highly variable clinical and immunologic phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2387. en:highly variable dysmorphic features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:highly variable dysmorphic features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2388. en:highly variable intrafamilial severity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:highly variable intrafamilial severity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2389. en:highly variable pathologic phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:highly variable pathologic phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2390. en:highly variable phenotype and age of onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:highly variable phenotype and age of onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2391. en:highly variable phenotype and severity, even within families --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:highly variable phenotype and severity, even within families | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2392. en:highly variable phenotype in females --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:highly variable phenotype in females | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2393. en:highly variable phenotype with regard to pigmentation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:highly variable phenotype with regard to pigmentation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2394. en:highly variable phenotype, ranging from asymptomatic to death by age 3 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:highly variable phenotype, ranging from asymptomatic to death by age 3 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2395. en:highly variable phenotype, ranging from neonatal encephalopathy to mild mental retardation with autistic features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:highly variable phenotype, ranging from neonatal encephalopathy to mild mental retardation with autistic features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2396. en:highly variable severity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:highly variable severity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2397. en:highly variable severity of muscle weakness --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:highly variable severity of muscle weakness | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2398. en:hip girdle involvement precedes and is usually greater than shoulder girdle involvement --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hip girdle involvement precedes and is usually greater than shoulder girdle involvement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2399. en:hip replacement in early adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hip replacement in early adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2400. en:histologic features overlap with henoch-schonlein purpura (hspn) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:histologic features overlap with henoch-schonlein purpura (hspn) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2401. en:hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2402. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2403. en:homozygotes have earlier onset and a more severe disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:homozygotes have earlier onset and a more severe disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2404. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2405. en:homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome (176261.0001) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome (176261.0001) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2406. en:homozygous patients have earlier-onset and more severe disease --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:homozygous patients have earlier-onset and more severe disease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2407. 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:incidence of 1 in 250,000 births
    n1=en:hundreds to thousands of patches of pale normal skin appear during childhood and increase in number and size over time | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2408. en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2409. en:hyperkeratosis triggered by chronic mechanical irritation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hyperkeratosis triggered by chronic mechanical irritation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2410. 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:incidence of 1 in 250,000 births
    n1=en:hyperphagia and weight gain as well as immunologic abnormalities and hypogonadism can be reversed by exogenously administered recombinant leptin | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2411. en:hyperpigmented skin macules appear after age 3 years and increase in frequency with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hyperpigmented skin macules appear after age 3 years and increase in frequency with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2412. en:hypertension is presenting sign --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hypertension is presenting sign | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2413. en:hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2414. en:hypogonadism reported in a large swedish kindred --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hypogonadism reported in a large swedish kindred | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2415. en:hyponatremia usually associated with gastroenteritis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hyponatremia usually associated with gastroenteritis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2416. en:hypoventilation occurs in the absence of primary neuromuscular, lung, or cardiac disease, or an identifiable brainstem lesion --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:hypoventilation occurs in the absence of primary neuromuscular, lung, or cardiac disease, or an identifiable brainstem lesion | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2417. en:icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2418. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2419. en:immunodeficiency is progressive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:immunodeficiency is progressive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2420. 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:incidence of 1 in 250,000 births
    n1=en:immunologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2421. en:immunosuppressive therapy may be beneficial --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:immunosuppressive therapy may be beneficial | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2422. en:impaired healing --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:impaired healing | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2423. en:imprinting at 11p15.5 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:imprinting at 11p15.5 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2424. en:improvement of abnormal muscle biopsy and cox deficiency --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:improvement of abnormal muscle biopsy and cox deficiency | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2425. en:improvement of epimetaphyseal changes with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:improvement of epimetaphyseal changes with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2426. en:in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2427. en:in adults, may be considered part of a spectrum with hemolytic-uremic syndrome (hus, 235400) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:in adults, may be considered part of a spectrum with hemolytic-uremic syndrome (hus, 235400) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2428. en:in contrast to other forms of progeria, these patients do not have atherosclerosis, cardiac ischemia, or metabolic abnormalities --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:in contrast to other forms of progeria, these patients do not have atherosclerosis, cardiac ischemia, or metabolic abnormalities | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2429. en:in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2430. en:in some patients, qtc interval is prolonged only during exercise testing --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:in some patients, qtc interval is prolonged only during exercise testing | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2431. en:inborn error of the pyrimidine degradation pathway --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:inborn error of the pyrimidine degradation pathway | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2432. en:incidence - 1 in 25,000-100,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence - 1 in 25,000-100,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2433. en:incidence 1 in 20,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence 1 in 20,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2434. en:incidence 1 in 300,000 in japan --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence 1 in 300,000 in japan | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2435. en:incidence 1 in 50,000-100,000 in western europe --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence 1 in 50,000-100,000 in western europe | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2436. en:incidence 1 in 6,000 to 1 in 8,000 live births --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence 1 in 6,000 to 1 in 8,000 live births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2437. en:incidence 1/1,200-1/15,000 live births --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence 1/1,200-1/15,000 live births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2438. en:incidence 1/20,000-1/64,000 male births --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence 1/20,000-1/64,000 male births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2439. en:incidence 2-5% of north american children --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence 2-5% of north american children | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2440. en:incidence 7-15% in pacific island populations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence 7-15% in pacific island populations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2441. en:incidence approximately 2-3/10,000 newborns --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence approximately 2-3/10,000 newborns | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2442. en:incidence in finland is 1 in 76,000 births --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence in finland is 1 in 76,000 births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2443. en:incidence in japan is 1 in 57,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence in japan is 1 in 57,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2444. en:incidence in the finnish population of 0.2-1.3 cases per million per year --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence in the finnish population of 0.2-1.3 cases per million per year | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2445. en:incidence in united states of 1 in 55,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence in united states of 1 in 55,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2446. en:incidence is less than 1 in 70,000 births --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence is less than 1 in 70,000 births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2447. en:incidence of 0.51 per million in france --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 0.51 per million in france | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2448. en:incidence of 1 in 1,000,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 1,000,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2449. en:incidence of 1 in 100 in some local nordic areas --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 100 in some local nordic areas | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2450. en:incidence of 1 in 100,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 100,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2451. en:incidence of 1 in 100,000 births in caucasians --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 100,000 births in caucasians | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2452. en:incidence of 1 in 150,000 live births in the general population --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 150,000 live births in the general population | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2453. en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2454. en:incidence of 1 in 20,000 live births --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 20,000 live births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2455. en:incidence of 1 in 25,000 to 1 in 50,000 newborns --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 25,000 to 1 in 50,000 newborns | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2456. en:incidence of 1 in 276,000 in the netherlands --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 276,000 in the netherlands | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2457. en:incidence of 1 in 3,900 births among jewish persons --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 3,900 births among jewish persons | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2458. en:incidence of 1 in 320,000 births among non-jewish persons --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 320,000 births among non-jewish persons | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2459. en:incidence of 1 in 40,000 infants worldwide --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 40,000 infants worldwide | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2460. en:incidence of 1 in 480 among old order amish --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 480 among old order amish | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2461. en:incidence of 1 in 5,000 to 1 in 7,000 in moroccan jewish individuals --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 5,000 to 1 in 7,000 in moroccan jewish individuals | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2462. en:incidence of 1 in 5,000-8,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 5,000-8,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2463. en:incidence of 1 in 500,000 live births --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 500,000 live births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2464. en:incidence of 1 in 6,000 males --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 in 6,000 males | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2465. en:incidence of 1 per 10,000 births in japan --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1 per 10,000 births in japan | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2466. en:incidence of 1% in yarmouth county, nova scotia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1% in yarmouth county, nova scotia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2467. en:incidence of 1/100,000 in italy and finland --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1/100,000 in italy and finland | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2468. en:incidence of 1/50,000 births --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 1/50,000 births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2469. en:incidence of 12.2 per 100,000 in finland --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 12.2 per 100,000 in finland | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2470. en:incidence of 4 per million per year --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of 4 per million per year | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2471. en:incidence of all forms of cjd is 0.5 to 1.5 per million per year --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of all forms of cjd is 0.5 to 1.5 per million per year | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2472. en:incidence of mh in anesthetized adults is 1 in 50,000-100,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of mh in anesthetized adults is 1 in 50,000-100,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2473. en:incidence of mh in anesthetized children is 1 in 15,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence of mh in anesthetized children is 1 in 15,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2474. en:incidence ranges from 1 in 238,095 to 1 in 300,000 births --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence ranges from 1 in 238,095 to 1 in 300,000 births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2475. en:incidence ranges from 1 in 8,500 to 1 in 12,000 births --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence ranges from 1 in 8,500 to 1 in 12,000 births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2476. en:incidence, 1 in 650-1000 live births --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incidence, 1 in 650-1000 live births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2477. en:incomplete penetance of some features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incomplete penetance of some features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2478. en:incomplete penetrance (as low as 30% in some cases) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incomplete penetrance (as low as 30% in some cases) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2479. en:incomplete penetrance - approximately 50% males and 10% females with a pathogenic mtdna mutation develop the optic neuropathy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incomplete penetrance - approximately 50% males and 10% females with a pathogenic mtdna mutation develop the optic neuropathy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2480. en:incomplete penetrance in females --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incomplete penetrance in females | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2481. en:incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2482. en:incomplete penetrance, some individuals have only emg changes without other clinical signs --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incomplete penetrance, some individuals have only emg changes without other clinical signs | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2483. en:incomplete, age-associated penetrance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:incomplete, age-associated penetrance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2484. en:increased abortuses of homozygous or compound heterozygous fetuses --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased abortuses of homozygous or compound heterozygous fetuses | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2485. en:increased bleeding after surgery --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased bleeding after surgery | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2486. 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:incidence of 1 in 250,000 births
    n1=en:increased frequency among french-canadians from the charlevoix-saguenay-lac saint jean area of quebec (carrier rate 1 in 26) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2487. en:increased frequency among individuals of east asian descent --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased frequency among individuals of east asian descent | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2488. en:increased frequency among japanese and chinese --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased frequency among japanese and chinese | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2489. en:increased frequency among jewish iranian individuals from isfahan --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased frequency among jewish iranian individuals from isfahan | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2490. en:increased frequency in ashkenazi jewish population (1/100 are carriers) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased frequency in ashkenazi jewish population (1/100 are carriers) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2491. en:increased frequency in ashkenazi jewish population and in finland --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased frequency in ashkenazi jewish population and in finland | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2492. en:increased frequency in ashkenazi jews (carrier frequency 1 in 14) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased frequency in ashkenazi jews (carrier frequency 1 in 14) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2493. en:increased frequency in eastern pennsylvania amish --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased frequency in eastern pennsylvania amish | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2494. en:increased frequency in finland --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased frequency in finland | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2495. en:increased frequency in finland (incidence 1:60,000 finnish newborns) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased frequency in finland (incidence 1:60,000 finnish newborns) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2496. en:increased frequency in finland (prevalence of 1 in 20,000) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased frequency in finland (prevalence of 1 in 20,000) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2497. en:increased frequency in individuals of asian descent --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased frequency in individuals of asian descent | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2498. en:increased frequency in individuals originating from western scotland --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased frequency in individuals originating from western scotland | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2499. en:increased frequency in iraqi jews, selected arab populations, french gypsies, and natives of southern india --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased frequency in iraqi jews, selected arab populations, french gypsies, and natives of southern india | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2500. en:increased frequency in persian jews (1:1,300) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased frequency in persian jews (1:1,300) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2501. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2502. en:increased frequency in the dariusleut hutterites (canada) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased frequency in the dariusleut hutterites (canada) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2503. en:increased frequency in the faroe islands (carrier 1 in 25) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased frequency in the faroe islands (carrier 1 in 25) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2504. en:increased frequency in the finnish population --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased frequency in the finnish population | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2505. 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:incidence of 1 in 250,000 births
    n1=en:increased frequency in the ngobe-bugle tribe in the boca del toro province, on the northwestern caribbean coast of panama | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2506. en:increased frequency in the state of bahia, brazil --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased frequency in the state of bahia, brazil | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2507. en:increased frequency in vastebotten county in northern sweden and gelenau in southeastern germany --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased frequency in vastebotten county in northern sweden and gelenau in southeastern germany | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2508. en:increased male-to-female ratio (3-4 to 1) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased male-to-female ratio (3-4 to 1) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2509. en:increased morbidity/mortality in affected males --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased morbidity/mortality in affected males | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2510. en:increased prevalence among the finnish --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased prevalence among the finnish | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2511. en:increased prevalence in individuals of jewish-iraqi origin --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased prevalence in individuals of jewish-iraqi origin | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2512. en:increased prevalence in individuals of turkish descent --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased prevalence in individuals of turkish descent | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2513. en:increased prevalence in northern finland (7.3/100,000) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased prevalence in northern finland (7.3/100,000) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2514. en:increased prevalence in persons of ashkenazi jewish descent --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased prevalence in persons of ashkenazi jewish descent | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2515. en:increased prevalence in the french-canadian population --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased prevalence in the french-canadian population | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2516. en:increased rate of miscarriage in affected individuals --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased rate of miscarriage in affected individuals | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2517. en:increased risk of bilateral breast cancer --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased risk of bilateral breast cancer | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2518. en:increased risk of developing multiple primary cancers --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased risk of developing multiple primary cancers | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2519. en:increased risk of miscarriage --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased risk of miscarriage | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2520. en:increased sensitivity to heat --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased sensitivity to heat | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2521. en:increased spontaneous abortions in carrier mothers --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased spontaneous abortions in carrier mothers | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2522. en:increased susceptibility to bacterial and opportunistic infections, such as pneumocystis carinii --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased susceptibility to bacterial and opportunistic infections, such as pneumocystis carinii | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2523. en:increased susceptibility to infections --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased susceptibility to infections | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2524. en:increased susceptibility to neisseria infections --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased susceptibility to neisseria infections | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2525. en:increased susceptibility to toxic effects of treatment with 6-mercaptopurine (6mp), 6-thioguanine (6tg), and azathioprine (aza) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased susceptibility to toxic effects of treatment with 6-mercaptopurine (6mp), 6-thioguanine (6tg), and azathioprine (aza) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2526. en:increased tendency to chromosomal nondisjunction --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:increased tendency to chromosomal nondisjunction | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2527. en:individuals develop ability to stand and walk --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:individuals develop ability to stand and walk | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2528. en:individuals may accumulate more pigment in hair and eyes with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:individuals may accumulate more pigment in hair and eyes with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2529. en:individuals with the pcs trait are phenotypically normal --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:individuals with the pcs trait are phenotypically normal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2530. en:infant death may occur secondary to sepsis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:infant death may occur secondary to sepsis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2531. 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:incidence of 1 in 250,000 births
    n1=en:infantile form (gene deletion 'complex' with glycerol kinase deficiency and/or duchenne muscular dystrophy and/or congenital adrenal hypoplasia) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2532. en:infantile form usually leads to death by age 2 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:infantile form usually leads to death by age 2 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2533. en:infantile onset (in 1 patient) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:infantile onset (in 1 patient) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2534. en:infants are stillborn or die before age 1 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:infants are stillborn or die before age 1 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2535. en:infants may die from apnea or aspiration --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:infants may die from apnea or aspiration | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2536. en:infants occasionally mistaken as having down syndrome --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:infants occasionally mistaken as having down syndrome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2537. en:infertility --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:infertility | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2538. en:inheritance may be x-linked dominant --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:inheritance may be x-linked dominant | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2539. en:initial cases reclassified as having schwartz-jampel syndrome (sjs1, 255800) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:initial cases reclassified as having schwartz-jampel syndrome (sjs1, 255800) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2540. en:initial recovery, but residual neurologic impairment occurs after repeated encephalopathic episodes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:initial recovery, but residual neurologic impairment occurs after repeated encephalopathic episodes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2541. en:initially normal for first 6-18 months which is then followed by withdrawal and regression --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:initially normal for first 6-18 months which is then followed by withdrawal and regression | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2542. en:insulin dependent diabetes mellitus:acnc:pt:^patient:ord --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:insulin dependent diabetes mellitus:acnc:pt:^patient:ord | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2543. en:intellectual disability is variable --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:intellectual disability is variable | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2544. en:intelligence is normal --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:intelligence is normal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2545. en:intermediate levels of factor x in mildly symptomatic heterozygotes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:intermediate levels of factor x in mildly symptomatic heterozygotes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2546. en:intermediate: onset in first decade with slow progression or onset in second decade with rapid progression --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:intermediate: onset in first decade with slow progression or onset in second decade with rapid progression | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2547. en:intermittent pyrexia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:intermittent pyrexia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2548. en:intolerant of heat --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:intolerant of heat | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2549. en:intracellular accumulation of material may not always be apparent --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:intracellular accumulation of material may not always be apparent | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2550. en:intrafamilial variability --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:intrafamilial variability | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2551. en:intrafamilial variability in degree of nail involvement --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:intrafamilial variability in degree of nail involvement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2552. en:intrafamilial variability in severity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:intrafamilial variability in severity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2553. en:intrafamilial variation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:intrafamilial variation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2554. en:intrathecal pressure:pressure:point in time:intrathecal space:quantitative --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:intrathecal pressure:pressure:point in time:intrathecal space:quantitative | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2555. en:intrauterine fetal death --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:intrauterine fetal death | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2556. en:involuntary and nonvolitional phenomenon --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:involuntary and nonvolitional phenomenon | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2557. en:isolated cases --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:isolated cases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2558. en:jbts shows autosomal dominant inheritance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:jbts shows autosomal dominant inheritance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2559. en:johanson-blizzard syndrome --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:johanson-blizzard syndrome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2560. en:joint dislocations become less frequent with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:joint dislocations become less frequent with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2561. en:joint replacement often necessary --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:joint replacement often necessary | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2562. en:juvenile absence epilepsy (jae, 607631) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:juvenile absence epilepsy (jae, 607631) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2563. en:juvenile and adult forms are isolated glycerol kinase deficiency --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:juvenile and adult forms are isolated glycerol kinase deficiency | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2564. en:juvenile myoclonic epilepsy (jme, 606904) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:juvenile myoclonic epilepsy (jme, 606904) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2565. en:juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2566. en:juvenile-onset (before 15 years of age) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:juvenile-onset (before 15 years of age) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2567. en:keratitis-ichthyosis-deafness syndrome --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:keratitis-ichthyosis-deafness syndrome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2568. en:keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2569. en:kid syndrome and hid syndrome are identical at the molecular level --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:kid syndrome and hid syndrome are identical at the molecular level | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2570. en:klippel-feil anomaly may be a part of other syndromes, including murcs (601076) and sprengel deformity (184400) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:klippel-feil anomaly may be a part of other syndromes, including murcs (601076) and sprengel deformity (184400) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2571. en:known as the 'french variety' of usher syndrome since the majority of families are from poitou-charentes, france --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:known as the 'french variety' of usher syndrome since the majority of families are from poitou-charentes, france | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2572. en:laboratory comment:txt:pt:report:nar --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:laboratory comment:txt:pt:report:nar | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2573. en:laboratory director name:pn:pt:provider:nom --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:laboratory director name:pn:pt:provider:nom | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2574. en:laboratory findings are variable --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:laboratory findings are variable | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2575. en:laryngeal edema can result in asphyxiation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:laryngeal edema can result in asphyxiation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2576. en:last name:pn:pt:^guardian or legally authorized representative:nom --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:last name:pn:pt:^guardian or legally authorized representative:nom | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2577. en:late infantile form has onset between 19 months and 4 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:late infantile form has onset between 19 months and 4 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2578. en:late onset combined immunodeficiency with allelic variant 102700.0020 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:late onset combined immunodeficiency with allelic variant 102700.0020 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2579. en:late-adult onset (range 50 to 80 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:late-adult onset (range 50 to 80 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2580. en:later childhood onset has been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:later childhood onset has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2581. en:later onset associated with milder severity has been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:later onset associated with milder severity has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2582. en:later onset has been rarely reported (up to age 68 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:later onset has been rarely reported (up to age 68 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2583. en:later onset has been reported (third or fourth decades) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:later onset has been reported (third or fourth decades) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2584. en:later onset is associated with slower progression and lesser severity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:later onset is associated with slower progression and lesser severity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2585. en:later onset may occur (1 to 11 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:later onset may occur (1 to 11 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2586. en:later onset of ophthalmoparesis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:later onset of ophthalmoparesis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2587. en:later onset with a milder phenotype may also occur --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:later onset with a milder phenotype may also occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2588. en:left side involvement associated with serious cardiac defect --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:left side involvement associated with serious cardiac defect | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2589. en:leg pain --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:leg pain | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2590. en:leigh syndrome, x-linked --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:leigh syndrome, x-linked | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2591. en:length of calorie fast:time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:length of calorie fast:time:point in time:^patient:quantitative | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2592. en:length of time post dose:time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:length of time post dose:time:point in time:^patient:quantitative | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2593. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2594. en:lesions appear in infancy or early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:lesions appear in infancy or early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2595. en:lesions become more prominent with sun exposure --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:lesions become more prominent with sun exposure | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2596. en:lesions grow and spread with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:lesions grow and spread with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2597. en:lesions occur mainly on the pinnae of the ears or on the face --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:lesions occur mainly on the pinnae of the ears or on the face | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2598. en:less severe phenotype in females --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:less severe phenotype in females | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2599. en:less than 50% penetrance in some families --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:less than 50% penetrance in some families | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2600. en:lethal in 40% of patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:lethal in 40% of patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2601. en:lethal in the neonatal period --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:lethal in the neonatal period | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2602. en:levodopa-responsive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:levodopa-responsive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2603. en:life-threatening in infancy due to sepsis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:life-threatening in infancy due to sepsis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2604. en:lifetime risk of breast cancer in male mutation carriers in 6% --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:lifetime risk of breast cancer in male mutation carriers in 6% | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2605. en:lifetime risk of breast cancer in mutation carriers is 80 to 90% --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:lifetime risk of breast cancer in mutation carriers is 80 to 90% | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2606. en:lifetime risk of ovarian cancer in mutation carriers is 40 to 50% --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:lifetime risk of ovarian cancer in mutation carriers is 40 to 50% | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2607. 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:incidence of 1 in 250,000 births
    n1=en:limb reduction defects typically involve the distal phalanges or entire digit, with rare involvement of more proximal limb structures | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2608. en:limb-girdle muscular dystrophy 1a (lgmd1a, 159000) is an allelic disorder with overlapping clinical features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:limb-girdle muscular dystrophy 1a (lgmd1a, 159000) is an allelic disorder with overlapping clinical features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2609. en:limb-girdle muscular dystrophy 1b (lgmd1b, 159001) is an allelic disorder with an overlapping phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:limb-girdle muscular dystrophy 1b (lgmd1b, 159001) is an allelic disorder with an overlapping phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2610. en:limb-girdle muscular dystrophy type 2l (lgmd2l, 611307) is an allelic disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:limb-girdle muscular dystrophy type 2l (lgmd2l, 611307) is an allelic disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2611. en:limited clinical information provided for patients with bbs12 mutations (last curated october 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:limited clinical information provided for patients with bbs12 mutations (last curated october 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2612. en:limited clinical information provided for patients with mks1 mutations (last curated october 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:limited clinical information provided for patients with mks1 mutations (last curated october 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2613. en:limited clinical information provided on patients with bbs7 mutations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:limited clinical information provided on patients with bbs7 mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2614. en:linked to 10q24 trisomy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:linked to 10q24 trisomy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2615. en:liver enzymes decrease with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:liver enzymes decrease with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2616. en:liver functions return to normal after 3 to 4 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:liver functions return to normal after 3 to 4 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2617. en:liver involvement can range from mild to severe --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:liver involvement can range from mild to severe | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2618. en:lmd is the homozygous form of the less severe leri-weill dyschondrosteosis (127300) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:lmd is the homozygous form of the less severe leri-weill dyschondrosteosis (127300) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2619. en:long duration --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:long duration | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2620. en:longer disease duration than creutzfeldt-jakob disease --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:longer disease duration than creutzfeldt-jakob disease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2621. en:loss initially affects mid and high frequencies --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:loss initially affects mid and high frequencies | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2622. en:loss of ambulation within 10 years of onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:loss of ambulation within 10 years of onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2623. en:loss of independent ambulation due to muscle weakness in adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:loss of independent ambulation due to muscle weakness in adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2624. en:loss of independent walking by teenage years (in some) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:loss of independent walking by teenage years (in some) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2625. en:low physical performance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:low physical performance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2626. en:lower limb involvement precedes upper limb involvement --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:lower limb involvement precedes upper limb involvement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2627. en:lower limbs more severely affected --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:lower limbs more severely affected | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2628. en:luton and torrance type differentiated based on histologic findings in cartilage --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:luton and torrance type differentiated based on histologic findings in cartilage | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2629. en:lymphedema resolves by age 3 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:lymphedema resolves by age 3 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2630. en:lymphedema that presents at puberty is called meige disease (153200) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:lymphedema that presents at puberty is called meige disease (153200) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2631. en:lysosomal storage vacuoles in trachea, liver, cartilage, and heart --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:lysosomal storage vacuoles in trachea, liver, cartilage, and heart | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2632. en:main aspects of phenotype attributed to defects in gtf2ird1 (604318) and gtf2i (601679) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:main aspects of phenotype attributed to defects in gtf2ird1 (604318) and gtf2i (601679) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2633. en:major fetal plasma protein produced by yolk sac and liver --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:major fetal plasma protein produced by yolk sac and liver | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2634. en:majority are sporadic cases, affected sibs have been described --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:majority are sporadic cases, affected sibs have been described | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2635. en:majority cases are sporadic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:majority cases are sporadic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2636. en:majority of affected individuals are female (85%) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:majority of affected individuals are female (85%) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2637. en:majority of cases are due to de novo mutation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:majority of cases are due to de novo mutation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2638. en:majority of cases are secondary to de novo mutation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:majority of cases are secondary to de novo mutation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2639. en:majority of cases are sporadic, some autosomal dominant families have been described --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:majority of cases are sporadic, some autosomal dominant families have been described | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2640. en:majority of cases from middle eastern countries --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:majority of cases from middle eastern countries | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2641. en:majority of cases have bilateral involvement --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:majority of cases have bilateral involvement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2642. en:majority of cases in japan --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:majority of cases in japan | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2643. en:majority of cases in manitoba indians, northeastern manitoba, canada --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:majority of cases in manitoba indians, northeastern manitoba, canada | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2644. en:majority of cases in the afrikaner population of south africa --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:majority of cases in the afrikaner population of south africa | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2645. en:majority of cases occur in brazilian population --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:majority of cases occur in brazilian population | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2646. en:majority of eec cases appear to be secondary to tp63 (603273) mutations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:majority of eec cases appear to be secondary to tp63 (603273) mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2647. en:majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 (300414) mutation) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 (300414) mutation) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2648. en:majority of individuals are healthy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:majority of individuals are healthy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2649. en:majority of patients are pyridoxine-responsive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:majority of patients are pyridoxine-responsive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2650. en:majority of patients develop symptoms within the first few weeks of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:majority of patients develop symptoms within the first few weeks of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2651. en:majority of patients from italy and southwestern united states --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:majority of patients from italy and southwestern united states | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2652. en:majority of por deficiency patients have an abs-like phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:majority of por deficiency patients have an abs-like phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2653. en:majority of wilms tumors are sporadic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:majority of wilms tumors are sporadic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2654. en:majority of wws patients die within the first year of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:majority of wws patients die within the first year of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2655. en:male infertility --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:male infertility | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2656. en:male predominance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:male predominance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2657. en:male to female ratio 21:8 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:male to female ratio 21:8 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2658. en:male to female ratio 7:1 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:male to female ratio 7:1 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2659. en:male-limited trait --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:male-limited trait | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2660. en:male-to-female ratio 3 to 1 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:male-to-female ratio 3 to 1 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2661. en:males are more commonly affected than females --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:males are more commonly affected than females | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2662. en:males are more severely affected than females --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:males are more severely affected than females | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2663. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2664. en:males died in neonatal period --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:males died in neonatal period | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2665. en:males mores severely affected than females --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:males mores severely affected than females | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2666. en:malnutrition can be severe, requiring total parenteral nutrition --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:malnutrition can be severe, requiring total parenteral nutrition | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2667. en:manifestations of cushing syndrome may be mild --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:manifestations of cushing syndrome may be mild | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2668. en:manifestations present in second decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:manifestations present in second decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2669. en:many cases are sporadic, but somatic and germline mosaicism has been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:many cases are sporadic, but somatic and germline mosaicism has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2670. en:many cases due to de novo mutation or chromosome aberration --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:many cases due to de novo mutation or chromosome aberration | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2671. en:many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1 (607001) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1 (607001) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2672. en:many cases result from de novo mutations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:many cases result from de novo mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2673. en:many patients are asymptomatic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:many patients are asymptomatic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2674. en:many patients become wheelchair-bound by second or third decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:many patients become wheelchair-bound by second or third decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2675. en:many patients become wheelchair-bound later in life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:many patients become wheelchair-bound later in life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2676. en:many patients die by 1-3 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:many patients die by 1-3 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2677. en:many patients recover normally --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:many patients recover normally | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2678. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2679. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2680. en:marked clinical heterogeneity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:marked clinical heterogeneity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2681. en:marked favorable response to l-dopa treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:marked favorable response to l-dopa treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2682. en:marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2683. en:marked phenotypic variability --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:marked phenotypic variability | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2684. en:marked variability in the deletion size --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:marked variability in the deletion size | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2685. en:marshall syndrome is allelic to stickler syndrome, type 2 (604841) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:marshall syndrome is allelic to stickler syndrome, type 2 (604841) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2686. en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2687. en:massive aortic aneurysm can cause airway compression in affected infants --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:massive aortic aneurysm can cause airway compression in affected infants | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2688. en:maternal breast milk is protective --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:maternal breast milk is protective | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2689. 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:incidence of 1 in 250,000 births
    n1=en:maternal imprinting of sgce results in reduced penetrance of the disorder when the mutation is inherited from the mother | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2690. en:maternal uniparental disomy (upd)7 reported in some cases --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:maternal uniparental disomy (upd)7 reported in some cases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2691. en:may be associated with other anomalies (e.g. okihiro syndrome (607323), wildervanck syndrome (314600)) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:may be associated with other anomalies (e.g. okihiro syndrome (607323), wildervanck syndrome (314600)) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2692. en:may be associated with polymorphisms in some surfactant genes, including sftpa1 (178630), sftpb (178640), and sftpc (178620) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:may be associated with polymorphisms in some surfactant genes, including sftpa1 (178630), sftpb (178640), and sftpc (178620) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2693. en:may be benign condition --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:may be benign condition | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2694. en:may be exacerbated by febrile illness --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:may be exacerbated by febrile illness | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2695. en:may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, 604233) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, 604233) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2696. en:may be fatal --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:may be fatal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2697. en:may be induced by fever or hot bath --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:may be induced by fever or hot bath | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2698. en:may be lethal in infancy if untreated --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:may be lethal in infancy if untreated | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2699. en:may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2700. en:may be present in asymptomatic adults --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:may be present in asymptomatic adults | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2701. en:may be same disorder as autosomal recessive optic atrophy 3 (258501) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:may be same disorder as autosomal recessive optic atrophy 3 (258501) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2702. en:may be same entity as elejalde syndrome (256710) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:may be same entity as elejalde syndrome (256710) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2703. 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:incidence of 1 in 250,000 births
    n1=en:may be same entity as griscelli syndrome type i (214450) caused by mutation in the myosin va gene (160777) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2704. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2705. en:may be triggered by increased practice --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:may be triggered by increased practice | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2706. en:may be x-linked --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:may be x-linked | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2707. en:may coexist with autoimmune vitiligo or thyroiditis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:may coexist with autoimmune vitiligo or thyroiditis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2708. en:may have less severe phenotype than rsts patients with crebbp mutations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:may have less severe phenotype than rsts patients with crebbp mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2709. en:may manifest as 'ataxic' phenotype without parkinsonian features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:may manifest as 'ataxic' phenotype without parkinsonian features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2710. en:may occur cormorbidly with poland syndrome (173800) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:may occur cormorbidly with poland syndrome (173800) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2711. en:may or may not be responsive to pyridoxine (vitamin b6) treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:may or may not be responsive to pyridoxine (vitamin b6) treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2712. en:may present in infancy with episodes of severe metabolic decompensation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:may present in infancy with episodes of severe metabolic decompensation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2713. en:may progress to upper limbs --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:may progress to upper limbs | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2714. en:may regress in adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:may regress in adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2715. en:may result in early death --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:may result in early death | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2716. en:mean age at diagnosis 16 years (range 6 to 22) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at diagnosis 16 years (range 6 to 22) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2717. en:mean age at diagnosis is 38 years(range 11-63 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at diagnosis is 38 years(range 11-63 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2718. en:mean age at onset 12.5 years (range 2 to 15 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset 12.5 years (range 2 to 15 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2719. en:mean age at onset 16.5 years (range 9 to 35 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset 16.5 years (range 9 to 35 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2720. en:mean age at onset 23.9 years (range 10 to 55 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset 23.9 years (range 10 to 55 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2721. en:mean age at onset 27 years (range 9 to 42) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset 27 years (range 9 to 42) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2722. en:mean age at onset 30.7 years (range 6 to 60 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset 30.7 years (range 6 to 60 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2723. en:mean age at onset 45 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset 45 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2724. en:mean age at onset 48 years (range 38 to 64) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset 48 years (range 38 to 64) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2725. en:mean age at onset 5 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset 5 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2726. en:mean age at onset for sporadic cjd is 60 years (range, 50 to 70 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset for sporadic cjd is 60 years (range, 50 to 70 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2727. en:mean age at onset for variant cjd is 29 years (before age 45 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset for variant cjd is 29 years (before age 45 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2728. en:mean age at onset is 10.4 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset is 10.4 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2729. en:mean age at onset of bone disease is 40 years (range 23-65) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset of bone disease is 40 years (range 23-65) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2730. en:mean age at onset of muscle disease is 42 years (range 24-61) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at onset of muscle disease is 42 years (range 24-61) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2731. en:mean age at resolution of symptoms 10 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mean age at resolution of symptoms 10 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2732. en:mean age of death is 34 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mean age of death is 34 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2733. en:mean age of diagnosis is 40 years (range 11 to 79 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mean age of diagnosis is 40 years (range 11 to 79 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2734. en:mean age of diagnosis of uterine leiomyomas is 30 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mean age of diagnosis of uterine leiomyomas is 30 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2735. en:mean age of onset 14-24 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mean age of onset 14-24 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2736. en:mean age of onset 18 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mean age of onset 18 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2737. en:mean age of onset 21 years (range 14-35 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mean age of onset 21 years (range 14-35 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2738. en:mean age of onset 30 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mean age of onset 30 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2739. en:mean age of onset 30 years (range first to seventh decade) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mean age of onset 30 years (range first to seventh decade) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2740. en:mean age of onset 34 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mean age of onset 34 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2741. en:mean age of onset 50.2 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mean age of onset 50.2 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2742. en:mean age of onset 56 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mean age of onset 56 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2743. en:mean duration of symptoms 4.2 plus or minus 2.4 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mean duration of symptoms 4.2 plus or minus 2.4 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2744. en:mechanical ventilation may be required --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mechanical ventilation may be required | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2745. en:mecp2 mutations are those found in females with rett syndrome (312750) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mecp2 mutations are those found in females with rett syndrome (312750) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2746. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2747. en:median age at diagnosis 7 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:median age at diagnosis 7 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2748. en:median age at onset is 21 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:median age at onset is 21 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2749. en:median age of diagnosis - 15 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:median age of diagnosis - 15 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2750. en:median age of onset of leukoplakia - 7 years (range 1-26 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:median age of onset of leukoplakia - 7 years (range 1-26 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2751. en:median age of onset of pancytopenia - 10 years (range 1-32 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:median age of onset of pancytopenia - 10 years (range 1-32 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2752. en:median life expectancy, 13.4 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:median life expectancy, 13.4 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2753. en:median onset of proteinuria is 18 years (range 10 to 21) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:median onset of proteinuria is 18 years (range 10 to 21) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2754. 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:incidence of 1 in 250,000 births
    n1=en:medical director review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2755. en:meiotic origin >95% maternal, mostly meiosis i --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:meiotic origin >95% maternal, mostly meiosis i | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2756. en:melnick-needles syndrome (mns, 309350) is an allelic disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:melnick-needles syndrome (mns, 309350) is an allelic disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2757. en:mental development worsens after onset of seizures --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mental development worsens after onset of seizures | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2758. en:mental retardation likely secondary to neonatal hypoxia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mental retardation likely secondary to neonatal hypoxia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2759. en:metabolic decompensation, episodic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:metabolic decompensation, episodic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2760. en:metabolic rate^resting:engrto:pt:^patient:qn --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:metabolic rate^resting:engrto:pt:^patient:qn | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2761. en:microdeletion is approximately 1.5mb in length --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:microdeletion is approximately 1.5mb in length | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2762. en:middle age onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:middle age onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2763. 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:incidence of 1 in 250,000 births
    n1=en:mild adult form, with onset after age 13 years, no cardiac involvement, and restricted to muscle involvement with rhabdomyolysis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2764. en:mild cases show clinical, biochemical, and mri improvement after the second year of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mild cases show clinical, biochemical, and mri improvement after the second year of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2765. en:mild disease course --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mild disease course | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2766. en:mild disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mild disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2767. en:mild expression in heterozygous carriers --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mild expression in heterozygous carriers | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2768. en:mild facial dysmorphism is associated with duplication of the flna gene --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mild facial dysmorphism is associated with duplication of the flna gene | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2769. en:mild features such as digital clubbing may be apparent in older heterozygotes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mild features such as digital clubbing may be apparent in older heterozygotes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2770. en:mild involvement of face and arms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mild involvement of face and arms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2771. en:mild manifestations in carrier females (cleft lip, cleft tongue) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mild manifestations in carrier females (cleft lip, cleft tongue) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2772. en:mild phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mild phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2773. en:mild phenotype onset - 11-18 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mild phenotype onset - 11-18 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2774. en:mild symptoms may occur in teenage years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mild symptoms may occur in teenage years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2775. en:mild to severe forms of disease --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mild to severe forms of disease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2776. en:milder cases have onset in childhood or adulthood with history of muscle weakness since infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:milder cases have onset in childhood or adulthood with history of muscle weakness since infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2777. en:milder disease with a more favorable prognosis than cmd1u (613694) due to psen1 mutations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:milder disease with a more favorable prognosis than cmd1u (613694) due to psen1 mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2778. en:milder expression in female heterozygotes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:milder expression in female heterozygotes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2779. en:milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2780. 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:incidence of 1 in 250,000 births
    n1=en:milder phenotype associated with aberrant function of a single domain of the zeb2 protein rather than complete haploinsufficiency of zeb2 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2781. en:milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2782. en:mildly progressive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mildly progressive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2783. en:minimal response to surfactant treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:minimal response to surfactant treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2784. en:minimum duplication includes bhlha9 (615416) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:minimum duplication includes bhlha9 (615416) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2785. en:minimum region of duplication is a 9.1-kb region located 40kb 5-prime of the ihh gene --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:minimum region of duplication is a 9.1-kb region located 40kb 5-prime of the ihh gene | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2786. en:mliii is a heterogeneous disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mliii is a heterogeneous disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2787. en:mode of inheritance is uncertain --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mode of inheritance is uncertain | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2788. en:mode of inheritance is unclear --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mode of inheritance is unclear | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2789. en:mode of inheritance is unclear, x-linked recessive inheritance could not be ruled out --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mode of inheritance is unclear, x-linked recessive inheritance could not be ruled out | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2790. en:moderate age-related improvement of pancreatic function --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:moderate age-related improvement of pancreatic function | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2791. en:momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2792. en:more common in ashkenazi jews --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:more common in ashkenazi jews | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2793. en:more common in females --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:more common in females | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2794. en:more common in females (male:female ratio 4:1) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:more common in females (male:female ratio 4:1) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2795. en:more common in males --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:more common in males | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2796. en:more common in men (9:1 male:female ratio) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:more common in men (9:1 male:female ratio) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2797. en:more common in men than women --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:more common in men than women | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2798. en:more common in women --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:more common in women | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2799. en:more common in women (90%) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:more common in women (90%) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2800. en:more commonly observed in women --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:more commonly observed in women | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2801. en:more frequent in females --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:more frequent in females | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2802. en:more frequent in individuals of asian descent --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:more frequent in individuals of asian descent | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2803. en:more frequent in males --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:more frequent in males | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2804. en:more prevalent in females --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:more prevalent in females | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2805. en:more severe in males than in females --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:more severe in males than in females | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2806. en:mortality approximately 20% in first 2 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mortality approximately 20% in first 2 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2807. en:mortality, premature --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mortality, premature | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2808. en:mosaic distribution of lesions --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mosaic distribution of lesions | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2809. en:most (80 to 90%) of cases result from deletions of the sts gene --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most (80 to 90%) of cases result from deletions of the sts gene | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2810. en:most affected infants die in the first month of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most affected infants die in the first month of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2811. en:most affected infants die shortly after birth from respiratory failure --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most affected infants die shortly after birth from respiratory failure | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2812. en:most affected males die of respiratory failure within the first months of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most affected males die of respiratory failure within the first months of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2813. en:most affected patients die in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most affected patients die in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2814. en:most become wheelchair-bound late in life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most become wheelchair-bound late in life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2815. en:most carrier females have mild mental retardation and subtle facial changes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most carrier females have mild mental retardation and subtle facial changes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2816. en:most case are sporadic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most case are sporadic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2817. en:most cases (98%) caused by expanded trinucleotide repeat (cgg)n in the fmr1 gene (309550.0004) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most cases (98%) caused by expanded trinucleotide repeat (cgg)n in the fmr1 gene (309550.0004) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2818. en:most cases are caused by mutation in the phox2b gene --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most cases are caused by mutation in the phox2b gene | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2819. en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2820. en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2821. en:most cases are isolated --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most cases are isolated | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2822. en:most cases are responsive to steroids --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most cases are responsive to steroids | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2823. en:most cases do not have mutations in the mapt gene, but map to chromosome 17q --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most cases do not have mutations in the mapt gene, but map to chromosome 17q | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2824. en:most cases due to de novo mutation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most cases due to de novo mutation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2825. en:most cases occur de novo --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most cases occur de novo | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2826. en:most cases result from a de novo mutation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most cases result from a de novo mutation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2827. en:most cases result from de novo mutation or deletion of rai1 (607642) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most cases result from de novo mutation or deletion of rai1 (607642) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2828. en:most cases result from de novo mutations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most cases result from de novo mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2829. en:most cases sporadic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most cases sporadic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2830. en:most children become wheelchair-bound --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most children become wheelchair-bound | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2831. en:most common age of clinical onset ranges from 16 to 33 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most common age of clinical onset ranges from 16 to 33 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2832. en:most common cancer in men aged 15-40 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most common cancer in men aged 15-40 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2833. en:most common disorder of fatty acid oxidation (1/13,000 births) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most common disorder of fatty acid oxidation (1/13,000 births) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2834. en:most common episodic ataxia syndrome --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most common episodic ataxia syndrome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2835. en:most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2836. en:most common form of bowel obstruction in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most common form of bowel obstruction in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2837. en:most common form of childhood idiopathic epilepsy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most common form of childhood idiopathic epilepsy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2838. en:most common form of congenital methemoglobinemia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most common form of congenital methemoglobinemia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2839. en:most common form of inherited, congenital hydrocephalus --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most common form of inherited, congenital hydrocephalus | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2840. en:most common form of porphyria --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most common form of porphyria | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2841. 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:incidence of 1 in 250,000 births
    n1=en:most common genetic abnormality is a (gaa)n trinucleotide repeat expansion in intron 1 of the fxn gene (606829.0001) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2842. en:most common inherited ataxia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most common inherited ataxia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2843. en:most common inherited bleeding disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most common inherited bleeding disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2844. en:most common inherited giant platelet disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most common inherited giant platelet disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2845. en:most common muscle disease of older persons --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most common muscle disease of older persons | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2846. en:most common mutation is leu276ile (606596.0004) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most common mutation is leu276ile (606596.0004) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2847. en:most common subtype of frontotemporal dementia (600274) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most common subtype of frontotemporal dementia (600274) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2848. en:most common terminal deletion syndrome --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most common terminal deletion syndrome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2849. en:most frequently affected joints - hands (98%) and feet (88%) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most frequently affected joints - hands (98%) and feet (88%) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2850. en:most have onset in first or second decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most have onset in first or second decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2851. en:most have resolution of symptoms between 6 and 12 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most have resolution of symptoms between 6 and 12 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2852. en:most individuals are asymptomatic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most individuals are asymptomatic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2853. en:most individuals are wheelchair-bound or bedridden by adolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most individuals are wheelchair-bound or bedridden by adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2854. en:most mutations occur de novo --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most mutations occur de novo | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2855. en:most patients appear unaffected in the first year of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients appear unaffected in the first year of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2856. en:most patients are asymptomatic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients are asymptomatic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2857. en:most patients are asymptomatic and are detected by newborn screening --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients are asymptomatic and are detected by newborn screening | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2858. en:most patients are clinically asymptomatic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients are clinically asymptomatic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2859. en:most patients are clinically asymptomatic and show normal development --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients are clinically asymptomatic and show normal development | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2860. en:most patients are female --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients are female | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2861. en:most patients are from finland --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients are from finland | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2862. en:most patients are severely affected --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients are severely affected | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2863. en:most patients are stillborn or die in immediate neonatal period --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients are stillborn or die in immediate neonatal period | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2864. en:most patients become seizure-free by age 3 or 4 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients become seizure-free by age 3 or 4 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2865. en:most patients become wheelchair-bound --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients become wheelchair-bound | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2866. en:most patients become wheelchair-bound after 20 to 30 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients become wheelchair-bound after 20 to 30 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2867. en:most patients become wheelchair-bound in adolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients become wheelchair-bound in adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2868. en:most patients become wheelchair-bound in adolescence or as young adults --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients become wheelchair-bound in adolescence or as young adults | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2869. en:most patients become wheelchair-bound in later childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients become wheelchair-bound in later childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2870. en:most patients become wheelchair-bound in the second to fourth decades --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients become wheelchair-bound in the second to fourth decades | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2871. en:most patients develop symptoms while on prophylactic vitamin d supplementation in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients develop symptoms while on prophylactic vitamin d supplementation in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2872. en:most patients die from heart failure --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients die from heart failure | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2873. en:most patients die in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients die in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2874. en:most patients die in early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients die in early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2875. en:most patients die in first years of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients die in first years of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2876. en:most patients die in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients die in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2877. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2878. en:most patients die in the neonatal period due to respiratory insufficiency --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients die in the neonatal period due to respiratory insufficiency | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2879. en:most patients die of hepatic failure by 9 months of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients die of hepatic failure by 9 months of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2880. en:most patients die of renal failure in early adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients die of renal failure in early adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2881. en:most patients die within the first year of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients die within the first year of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2882. en:most patients do not learn to sit or walk --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients do not learn to sit or walk | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2883. en:most patients have a family history of fragile x syndrome --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients have a family history of fragile x syndrome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2884. en:most patients have adult onset of symptoms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients have adult onset of symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2885. en:most patients have de novo mutations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients have de novo mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2886. 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:incidence of 1 in 250,000 births
    n1=en:most patients have involvement of all nails, with more severe changes in the nails of the thumbs and great toes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2887. en:most patients have no bleeding abnormalities --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients have no bleeding abnormalities | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2888. en:most patients have pure spastic paraplegia, some have complicated spastic paraplegia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients have pure spastic paraplegia, some have complicated spastic paraplegia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2889. en:most patients have recurrent 'flares' of pustular rash with fever, although some develop chronic erythematous plaques without pustules --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients have recurrent 'flares' of pustular rash with fever, although some develop chronic erythematous plaques without pustules | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2890. en:most patients have severe streptococcus pneumoniae infections --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients have severe streptococcus pneumoniae infections | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2891. en:most patients lose ambulation 2 years after onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients lose ambulation 2 years after onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2892. en:most patients need assistance walking or are wheelchair-bound --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients need assistance walking or are wheelchair-bound | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2893. en:most patients need hip replacement by their mid-thirties --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients need hip replacement by their mid-thirties | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2894. en:most patients present in infancy with anemia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients present in infancy with anemia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2895. en:most patients remain ambulatory --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients remain ambulatory | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2896. en:most patients remain ambulatory in adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients remain ambulatory in adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2897. en:most patients require ambulatory aids about 10 years after onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients require ambulatory aids about 10 years after onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2898. en:most patients require liver transplant in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients require liver transplant in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2899. en:most patients require liver transplantation within the first year of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients require liver transplantation within the first year of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2900. en:most patients retain ambulation with aids --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients retain ambulation with aids | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2901. en:most patients show early childhood onset after a period of normal development --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most patients show early childhood onset after a period of normal development | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2902. en:most pregnancies with affected fetuses resulted in elective termination molecular genetics : caused by mutation in the homolog of the drosophila crumbs 2 gene (crb2, 609720.0006) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most pregnancies with affected fetuses resulted in elective termination molecular genetics : caused by mutation in the homolog of the drosophila crumbs 2 gene (crb2, 609720.0006) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2903. en:most remit by 2 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most remit by 2 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2904. en:most remit by 6 weeks (1-6 months) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most remit by 6 weeks (1-6 months) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2905. en:most reported cases come from the island of mauritius or nearby islands --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most reported cases come from the island of mauritius or nearby islands | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2906. en:most retain independent ambulation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most retain independent ambulation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2907. en:most severe form of gaucher disease --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most severe form of gaucher disease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2908. en:most severe type of von willebrand disease --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most severe type of von willebrand disease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2909. en:most types show autosomal dominant inheritance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:most types show autosomal dominant inheritance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2910. en:mother had rubella infection during pregnancy with daughter --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mother had rubella infection during pregnancy with daughter | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2911. en:mother who carries the mutation is clinically unaffected --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mother who carries the mutation is clinically unaffected | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2912. en:motor developmental delay --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:motor developmental delay | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2913. en:motor fluctuations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:motor fluctuations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2914. en:motor impairment more significant than sensory impairment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:motor impairment more significant than sensory impairment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2915. en:motor neuropathy more prominent than sensory neuropathy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:motor neuropathy more prominent than sensory neuropathy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2916. en:motor skills less affected than cognitive skills --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:motor skills less affected than cognitive skills | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2917. en:motor symptoms are variable --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:motor symptoms are variable | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2918. en:motor symptoms develop later (about 5 years into illness) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:motor symptoms develop later (about 5 years into illness) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2919. en:motor symptoms show mild clinical improvement with levodopa treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:motor symptoms show mild clinical improvement with levodopa treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2920. en:mousy odor --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mousy odor | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2921. en:movements worsened by anxiety --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:movements worsened by anxiety | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2922. en:mps1 types are distinguished clinically by age of onset and progression or by mutation(s) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mps1 types are distinguished clinically by age of onset and progression or by mutation(s) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2923. en:mucocutaneous immunodeficiency syndrome may be prominent --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mucocutaneous immunodeficiency syndrome may be prominent | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2924. en:mulibrey is an acronym (muscle, liver, brain, and eyes) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mulibrey is an acronym (muscle, liver, brain, and eyes) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2925. en:multiorgan failure may result from hs --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:multiorgan failure may result from hs | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2926. en:multiple gene loci involved in causation of schizophrenia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:multiple gene loci involved in causation of schizophrenia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2927. en:multiple lesions in familial cases --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:multiple lesions in familial cases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2928. en:multiple mitochondrial dna deletions are found in autosomal dominant pedigrees --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:multiple mitochondrial dna deletions are found in autosomal dominant pedigrees | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2929. en:multiple seizures daily at onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:multiple seizures daily at onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2930. en:multiple spontaneous abortions in obligate carriers --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:multiple spontaneous abortions in obligate carriers | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2931. en:murcs association --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:murcs association | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2932. en:muscle contractions in infancy occur in response to tactile stimulation or crying --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:muscle contractions in infancy occur in response to tactile stimulation or crying | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2933. en:muscle involvement shows onset at birth or in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:muscle involvement shows onset at birth or in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2934. en:muscle symptoms precede cardiac symptoms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:muscle symptoms precede cardiac symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2935. en:muscle weakness increases with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:muscle weakness increases with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2936. en:muscle weakness occurs only in the presence of hyperthyroidism --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:muscle weakness occurs only in the presence of hyperthyroidism | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2937. en:mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2938. en:mut-0 denotes individuals with cultured fibroblast mutase activity that is undetectable secondary to no functional mutase --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mut-0 denotes individuals with cultured fibroblast mutase activity that is undetectable secondary to no functional mutase | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2939. en:mutant alleles have 47 to 63 repeats --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mutant alleles have 47 to 63 repeats | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2940. en:mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2941. en:mutation carriers may show toxicity to 5-fluorouracil (5fu) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mutation carriers may show toxicity to 5-fluorouracil (5fu) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2942. en:mutation found in 1 puerto rican family (last curated august 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mutation found in 1 puerto rican family (last curated august 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2943. en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2944. en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2945. en:mutation in npr2 results in gain-of-function --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mutation in npr2 results in gain-of-function | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2946. en:mutation in rp9 gene in family (607331.0001) likely not pathogenic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mutation in rp9 gene in family (607331.0001) likely not pathogenic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2947. en:mutation in the hcrt gene has been identified in 1 patient --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mutation in the hcrt gene has been identified in 1 patient | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2948. 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:incidence of 1 in 250,000 births
    n1=en:mutation in the mass1 gene has been identified in 1 of 48 families with familial febrile seizures linked to 5q14 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2949. en:mutational analysis revealed that the original weissenbacher-zweymuller patient had non-ophthalmic stickler syndrome (stkl3, 184840) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mutational analysis revealed that the original weissenbacher-zweymuller patient had non-ophthalmic stickler syndrome (stkl3, 184840) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2950. 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:incidence of 1 in 250,000 births
    n1=en:mutations in the cpo gene cause 3 clinically distinct disorders, hereditary coproporphyria (hcp), 'homozygous' variant hereditary coproporphyria, or harderoporphyria | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2951. en:mutations occur de novo --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mutations occur de novo | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2952. en:mutations show partial penetrance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:mutations show partial penetrance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2953. en:myelodysplastic syndrome developed in 1 of 12 mutation-positive patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:myelodysplastic syndrome developed in 1 of 12 mutation-positive patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2954. en:myoclonic seizures occur on awakening or within 2 hours of awakening --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:myoclonic seizures occur on awakening or within 2 hours of awakening | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2955. en:myoclonus triggered by action, sudden movements, and inadvertent somatosensory stimuli --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:myoclonus triggered by action, sudden movements, and inadvertent somatosensory stimuli | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2956. en:myotilinopathy (609200) is an allelic disorder with overlapping clinical features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:myotilinopathy (609200) is an allelic disorder with overlapping clinical features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2957. en:n-myc oncogene (164840) amplification is associated with poor prognosis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:n-myc oncogene (164840) amplification is associated with poor prognosis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2958. en:nail changes may be intermittent in some patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:nail changes may be intermittent in some patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2959. en:nails appear normal at birth, with dystrophic changes developing within the first decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:nails appear normal at birth, with dystrophic changes developing within the first decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2960. en:nails may be intermittently involved --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:nails may be intermittently involved | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2961. en:nails, palms, and soles are spared in some patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:nails, palms, and soles are spared in some patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2962. en:name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2963. en:narcolepsy and deafness are the first symptoms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:narcolepsy and deafness are the first symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2964. en:natural aversion to carbohydrates --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:natural aversion to carbohydrates | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2965. en:natural aversion to carbohydrates and favoring of protein --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:natural aversion to carbohydrates and favoring of protein | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2966. en:near-normoglycemic remission for period of months to years without insulin treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:near-normoglycemic remission for period of months to years without insulin treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2967. en:nearly 100% penetrance by 60 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:nearly 100% penetrance by 60 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2968. en:negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2969. en:neonatal and late-infantile onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neonatal and late-infantile onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2970. en:neonatal death secondary to pulmonary insufficiency --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neonatal death secondary to pulmonary insufficiency | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2971. en:neonatal lethal due to respiratory insufficiency --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neonatal lethal due to respiratory insufficiency | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2972. en:neonatal onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neonatal onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2973. en:neonatal onset of nephrotic syndrome --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neonatal onset of nephrotic syndrome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2974. en:neonatal or infant death --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neonatal or infant death | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2975. en:neonatal severe hyperparathyroidism in homozygotes (239200) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neonatal severe hyperparathyroidism in homozygotes (239200) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2976. en:neonatal/infantile death in most patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neonatal/infantile death in most patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2977. en:neuroendocrine recovery occurs in some patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neuroendocrine recovery occurs in some patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2978. en:neurologic deterioration is severe after age 2 to 2.5 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neurologic deterioration is severe after age 2 to 2.5 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2979. en:neurologic dysfunction is infrequent and associated with delayed diagnosis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neurologic dysfunction is infrequent and associated with delayed diagnosis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2980. en:neurologic features are variable and not progressive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neurologic features are variable and not progressive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2981. en:neurologic features have been diagnosed in ~30% of cases --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neurologic features have been diagnosed in ~30% of cases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2982. en:neurologic features occur in adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neurologic features occur in adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2983. en:neurologic features occur later in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neurologic features occur later in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2984. en:neurologic findings closely resemble those of huntington disease (hd, 143100) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neurologic findings closely resemble those of huntington disease (hd, 143100) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2985. en:neurologic involvement may occur in the absence of visceral involvement --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neurologic involvement may occur in the absence of visceral involvement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2986. en:neurologic signs are present in the neonatal period only --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neurologic signs are present in the neonatal period only | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2987. en:neurologic signs last hours to days --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neurologic signs last hours to days | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2988. en:neurologic signs may not be present --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neurologic signs may not be present | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2989. en:neurologic signs onset during adolescence or young adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neurologic signs onset during adolescence or young adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2990. en:neurologic symptoms are not always present or may appear late --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neurologic symptoms are not always present or may appear late | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2991. en:neurologic symptoms are progressive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neurologic symptoms are progressive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2992. en:neurologic symptoms may develop decades later --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neurologic symptoms may develop decades later | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2993. en:neurologic symptoms may occur after trauma --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neurologic symptoms may occur after trauma | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2994. en:neuromuscular forms can present as perinate, infant, child, or adult --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neuromuscular forms can present as perinate, infant, child, or adult | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2995. en:neuromuscular, cardiovascular, and infectious symptoms improve with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neuromuscular, cardiovascular, and infectious symptoms improve with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2996. en:neuropathic, cardiac, leptomeningeal, and ocular predominance may occur --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neuropathic, cardiac, leptomeningeal, and ocular predominance may occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2997. en:neuropathy becomes apparent in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neuropathy becomes apparent in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2998. en:neuropsychiatric manifestations are variable --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neuropsychiatric manifestations are variable | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  2999. en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3000. en:new skin lesions stop appearing before adolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:new skin lesions stop appearing before adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3001. en:newborn period is critical for survival --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:newborn period is critical for survival | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3002. en:night blindness from early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:night blindness from early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3003. en:nine patients have been reported in detail (as of 14 june 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:nine patients have been reported in detail (as of 14 june 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3004. en:ninety percent of cases are female --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:ninety percent of cases are female | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3005. en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3006. en:no abdominal symptoms or neurologic symptoms in harderoporphyria --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no abdominal symptoms or neurologic symptoms in harderoporphyria | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3007. en:no abnormalities of hair, teeth, or bones --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no abnormalities of hair, teeth, or bones | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3008. en:no abnormalities of skin, hair, teeth, or bones --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no abnormalities of skin, hair, teeth, or bones | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3009. en:no cardiac or immune defects in patients from the 2 reported families --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no cardiac or immune defects in patients from the 2 reported families | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3010. en:no chronic or permanent liver damage --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no chronic or permanent liver damage | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3011. en:no clinical description given for 1 reported patient (last curated december 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no clinical description given for 1 reported patient (last curated december 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3012. en:no clinical details provided by the authors --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no clinical details provided by the authors | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3013. en:no clinical manifestations were noted (incidental laboratory finding) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no clinical manifestations were noted (incidental laboratory finding) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3014. en:no congenital form --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no congenital form | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3015. en:no dysmorphic features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no dysmorphic features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3016. en:no family history of --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no family history of | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3017. en:no family history, de novo mutations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no family history, de novo mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3018. en:no features consistent with cystic fibrosis found in these patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no features consistent with cystic fibrosis found in these patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3019. en:no history of familial hypercholesterolemia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no history of familial hypercholesterolemia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3020. en:no increased fragility of hair --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no increased fragility of hair | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3021. en:no male-to-male transmission --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no male-to-male transmission | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3022. en:no mutations reported in la reunion island patients (last curated august 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no mutations reported in la reunion island patients (last curated august 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3023. en:no neurologic sequelae --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no neurologic sequelae | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3024. en:no opportunistic infections --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no opportunistic infections | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3025. en:no peripheral signs of hypothyroidism --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no peripheral signs of hypothyroidism | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3026. en:no phenotype in heterozygotes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no phenotype in heterozygotes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3027. en:no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3028. en:no phenotypic manifestations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no phenotypic manifestations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3029. en:no preceding skin inflammatory stage --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no preceding skin inflammatory stage | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3030. en:no predisposition to skin tumor development --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no predisposition to skin tumor development | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3031. en:no response or worsening with acetylcholinesterase inhibitors --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no response or worsening with acetylcholinesterase inhibitors | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3032. en:no response to phenobarbital --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no response to phenobarbital | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3033. en:no skeletal abnormalities in odontohypophosphatasia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no skeletal abnormalities in odontohypophosphatasia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3034. en:no systemic manifestations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:no systemic manifestations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3035. en:noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 hz) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 hz) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3036. en:non-progressive and more severe progressive forms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:non-progressive and more severe progressive forms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3037. en:non-progressive or very slowly progressive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:non-progressive or very slowly progressive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3038. en:non-tender --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:non-tender | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3039. en:nonpenetrance has been observed --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:nonpenetrance has been observed | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3040. en:nonprogressive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:nonprogressive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3041. en:nonprogressive hepatic form is less frequent --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:nonprogressive hepatic form is less frequent | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3042. en:nonprogressive or slowly progressive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:nonprogressive or slowly progressive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3043. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3044. en:nonreflex epilepsy may occur later in 16 to 38% of patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:nonreflex epilepsy may occur later in 16 to 38% of patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3045. en:nonsyndromic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:nonsyndromic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3046. en:nonsyndromic disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:nonsyndromic disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3047. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3048. en:normal - 5 to 37 copies of (ctg)n repeat in dmpk (605377) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:normal - 5 to 37 copies of (ctg)n repeat in dmpk (605377) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3049. en:normal ability to tolerate heat --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:normal ability to tolerate heat | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3050. en:normal alleles contain 15 to 50 repeats --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:normal alleles contain 15 to 50 repeats | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3051. en:normal alleles contain 6 to 28 repeats --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:normal alleles contain 6 to 28 repeats | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3052. en:normal alleles contain up to 30 repeats --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:normal alleles contain up to 30 repeats | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3053. en:normal alleles contain up to 44 repeats --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:normal alleles contain up to 44 repeats | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3054. en:normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3055. en:normal alleles have 25 to 44 repeats --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:normal alleles have 25 to 44 repeats | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3056. en:normal alleles have 4 to 18 repeats --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:normal alleles have 4 to 18 repeats | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3057. en:normal at birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:normal at birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3058. en:normal birth (finding) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:normal birth (finding) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3059. en:normal cag repeat length is 7 to 32 triplets --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:normal cag repeat length is 7 to 32 triplets | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3060. en:normal development between episodes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:normal development between episodes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3061. 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:incidence of 1 in 250,000 births
    n1=en:normal development in first 6-12 months, followed by facial coarsening and progressive delay in physical and mental development | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3062. en:normal development until onset of seizures --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:normal development until onset of seizures | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3063. en:normal female secondary sexual characteristics --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:normal female secondary sexual characteristics | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3064. en:normal fertility --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:normal fertility | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3065. en:normal first month --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:normal first month | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3066. en:normal growth and development after 1 year of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:normal growth and development after 1 year of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3067. en:normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3068. en:normal in neonatal period --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:normal in neonatal period | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3069. en:normal intelligence in majority --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:normal intelligence in majority | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3070. en:normal neonatal blood phenylalanine has been reported in rare patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:normal neonatal blood phenylalanine has been reported in rare patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3071. en:normal neonatal course --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:normal neonatal course | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3072. en:normal physical and neurologic development --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:normal physical and neurologic development | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3073. en:normal range of expanded repeats 9-29, hd range 36-121 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:normal range of expanded repeats 9-29, hd range 36-121 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3074. en:normal sialophorin gene --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:normal sialophorin gene | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3075. en:normal sweat electrolytes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:normal sweat electrolytes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3076. en:not all nails are affected in some patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:not all nails are affected in some patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3077. en:not all patients have a myopathy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:not all patients have a myopathy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3078. en:not all patients have facial dysmorphism --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:not all patients have facial dysmorphism | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3079. en:not all patients have skeletal muscle symptoms or mental retardation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:not all patients have skeletal muscle symptoms or mental retardation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3080. en:not responsive to biotin treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:not responsive to biotin treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3081. en:not responsive to steroid treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:not responsive to steroid treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3082. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3083. en:nphp shows autosomal recessive inheritance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:nphp shows autosomal recessive inheritance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3084. en:number of episodes varies from 1 to many (up to 20) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:number of episodes varies from 1 to many (up to 20) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3085. en:nutritional risk index:arbitrary concentration:point in time:^patient:quantitative --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:nutritional risk index:arbitrary concentration:point in time:^patient:quantitative | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3086. en:nyctalopia is a later feature of the disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:nyctalopia is a later feature of the disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3087. en:nystagmus is often the presenting sign --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:nystagmus is often the presenting sign | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3088. en:nystagmus may disappear by mid-childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:nystagmus may disappear by mid-childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3089. en:obligate female carriers may show mild signs of muscle weakness, especially of the face --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:obligate female carriers may show mild signs of muscle weakness, especially of the face | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3090. en:obligatory heterozygotes are clinically unaffected --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:obligatory heterozygotes are clinically unaffected | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3091. en:observed in individuals of bulgarian roma bowlmaker ethnic group --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:observed in individuals of bulgarian roma bowlmaker ethnic group | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3092. en:occasional adult onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:occasional adult onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3093. en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3094. en:occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3095. en:occasionally low-dose insulin required --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:occasionally low-dose insulin required | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3096. en:occurs at age 20-50 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:occurs at age 20-50 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3097. en:occurs during pregnancy, most often in the third trimester --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:occurs during pregnancy, most often in the third trimester | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3098. en:occurs in 1 in 50,000 newborn males --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:occurs in 1 in 50,000 newborn males | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3099. en:occurs in 2-5 per 10,000 individuals --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:occurs in 2-5 per 10,000 individuals | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3100. en:occurs in about 1 in 10,000 births --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:occurs in about 1 in 10,000 births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3101. en:occurs in at least 1 in 55,000 male births (that figure may not include milder variants) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:occurs in at least 1 in 55,000 male births (that figure may not include milder variants) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3102. en:occurs in full-term infants --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:occurs in full-term infants | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3103. en:occurs in full-term newborns --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:occurs in full-term newborns | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3104. en:occurs in the absence of trauma --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:occurs in the absence of trauma | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3105. en:occurs in women and is triggered by pregnancy or estrogen therapy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:occurs in women and is triggered by pregnancy or estrogen therapy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3106. en:occurs in ~3% pregnancies in western populations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:occurs in ~3% pregnancies in western populations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3107. en:occurs more frequently in females --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:occurs more frequently in females | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3108. en:occurs most often among black africans --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:occurs most often among black africans | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3109. en:occurs most often between 5 and 15 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:occurs most often between 5 and 15 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3110. en:occurs most often in developing countries in tropical regions --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:occurs most often in developing countries in tropical regions | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3111. en:occurs much more commonly in women --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:occurs much more commonly in women | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3112. en:occurs on right side in 75% of cases --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:occurs on right side in 75% of cases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3113. en:ocular abnormalities may be very mild --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:ocular abnormalities may be very mild | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3114. 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:incidence of 1 in 250,000 births
    n1=en:ocular phenotype falls within a spectrum of retinal dystrophy from severe, leber congenital amaurosis, to less severe, juvenile retinitis pigmentosa | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3115. en:oculomotor apraxia is not always present --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:oculomotor apraxia is not always present | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3116. en:odor of 'sweaty feet' --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:odor of 'sweaty feet' | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3117. en:oeis is an acronym for omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:oeis is an acronym for omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3118. en:often associated with chiari type i malformation (cm1, 118420) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:often associated with chiari type i malformation (cm1, 118420) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3119. en:often associated with klippel-feil anomaly (118100) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:often associated with klippel-feil anomaly (118100) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3120. en:often associated with syringomyelia (186700) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:often associated with syringomyelia (186700) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3121. en:often confused with tuberous sclerosis (191000) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:often confused with tuberous sclerosis (191000) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3122. en:often diagnosed between ages 3-4 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:often diagnosed between ages 3-4 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3123. en:often fatal due in infancy due to intractable diarrhea --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:often fatal due in infancy due to intractable diarrhea | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3124. en:often fatal in utero --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:often fatal in utero | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3125. en:often identified in newborn period --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:often identified in newborn period | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3126. en:often lethal in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:often lethal in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3127. en:often presents with cranial or cervical involvement --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:often presents with cranial or cervical involvement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3128. en:often reared as females until puberty --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:often reared as females until puberty | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3129. en:often refractory to medical therapy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:often refractory to medical therapy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3130. en:often results in death in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:often results in death in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3131. en:often unilateral involvement --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:often unilateral involvement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3132. en:old order amish, african american, and french patients have been described --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:old order amish, african american, and french patients have been described | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3133. en:older individuals had moderate to severe hearing loss --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:older individuals had moderate to severe hearing loss | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3134. en:older patients become wheelchair-dependent --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:older patients become wheelchair-dependent | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3135. en:oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3136. en:one 3-generation korean family reported (as of january 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one 3-generation korean family reported (as of january 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3137. en:one 4-generation caucasian italian family with a heterozygous crybb3 mutation has been reported (last curated august 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one 4-generation caucasian italian family with a heterozygous crybb3 mutation has been reported (last curated august 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3138. en:one 4-generation chinese family has been reported (as of 04/2010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one 4-generation chinese family has been reported (as of 04/2010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3139. en:one 5-generation acc family with mutation in bms1 has been described (last curated august 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one 5-generation acc family with mutation in bms1 has been described (last curated august 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3140. en:one 5-generation chinese family reported (last curated november 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one 5-generation chinese family reported (last curated november 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3141. en:one 9-generation family and 1 isolated patient described (last curated march 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one 9-generation family and 1 isolated patient described (last curated march 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3142. en:one amish family has been reported (last curated july 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one amish family has been reported (last curated july 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3143. en:one brazilian family with 12 affected individuals reported (last curated february 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one brazilian family with 12 affected individuals reported (last curated february 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3144. en:one brother and sister of micmac indian and french-canadian ancestry have been reported (last curated september 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one brother and sister of micmac indian and french-canadian ancestry have been reported (last curated september 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3145. en:one canadian mennonite family has been reported (last curated november 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one canadian mennonite family has been reported (last curated november 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3146. en:one child has been reported (as of october 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one child has been reported (as of october 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3147. en:one chinese family and 1 unrelated patient have been reported (last curated april 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one chinese family and 1 unrelated patient have been reported (last curated april 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3148. en:one chinese family has been reported (as of august 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one chinese family has been reported (as of august 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3149. en:one chinese family has been reported (last curated july 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one chinese family has been reported (last curated july 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3150. en:one chinese family has been reported (last curated october 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one chinese family has been reported (last curated october 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3151. en:one chinese family with 14 affected individuals has been described (last curated february 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one chinese family with 14 affected individuals has been described (last curated february 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3152. en:one compound heterozygous patient reported (last curated february 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one compound heterozygous patient reported (last curated february 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3153. en:one consanguineous arab israeli family has been reported (last curated february, 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one consanguineous arab israeli family has been reported (last curated february, 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3154. en:one consanguineous caucasian united kingdom family has been reported (last curated january 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one consanguineous caucasian united kingdom family has been reported (last curated january 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3155. en:one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3156. en:one consanguineous family has been reported (last curated december 2010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one consanguineous family has been reported (last curated december 2010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3157. en:one consanguineous family has been reported (last curated june 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one consanguineous family has been reported (last curated june 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3158. en:one consanguineous family has been reported (last curated may 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one consanguineous family has been reported (last curated may 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3159. en:one consanguineous family has been reported (last curated may 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one consanguineous family has been reported (last curated may 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3160. en:one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3161. en:one consanguineous family of indian descent has been reported (last curated january 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one consanguineous family of indian descent has been reported (last curated january 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3162. en:one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3163. en:one consanguineous moroccan family has been reported (as of january 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one consanguineous moroccan family has been reported (as of january 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3164. en:one consanguineous pakistani family has been described (last curated march 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one consanguineous pakistani family has been described (last curated march 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3165. en:one consanguineous pakistani family has been reported (as of january 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one consanguineous pakistani family has been reported (as of january 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3166. en:one consanguineous pakistani family has been reported (last curated june 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one consanguineous pakistani family has been reported (last curated june 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3167. en:one consanguineous pakistani family has been reported (last curated november 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one consanguineous pakistani family has been reported (last curated november 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3168. en:one consanguineous pakistani family has been reported (last curated october 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one consanguineous pakistani family has been reported (last curated october 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3169. en:one consanguineous pakistani family has been reported (last curated september 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one consanguineous pakistani family has been reported (last curated september 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3170. en:one consanguineous pakistani family reported (last curated august 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one consanguineous pakistani family reported (last curated august 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3171. en:one consanguineous pakistani has been reported (last curated august 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one consanguineous pakistani has been reported (last curated august 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3172. en:one consanguineous pakistani reported (last curated july 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one consanguineous pakistani reported (last curated july 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3173. en:one consanguineous saudi arabian family has been reported (last curated august 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one consanguineous saudi arabian family has been reported (last curated august 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3174. en:one consanguineous saudi family had additional features of microcephaly, mental retardation, ophthalmoplegia, and syndactyly --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one consanguineous saudi family had additional features of microcephaly, mental retardation, ophthalmoplegia, and syndactyly | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3175. en:one consanguineous saudi family has been reported (last curated october 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one consanguineous saudi family has been reported (last curated october 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3176. en:one consanguineous senegalese family has been reported (last curated december 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one consanguineous senegalese family has been reported (last curated december 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3177. en:one consanguineous turkish family has been reported (last curated december 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one consanguineous turkish family has been reported (last curated december 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3178. en:one consanguineous turkish family has been reported (last curated july 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one consanguineous turkish family has been reported (last curated july 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3179. en:one consanguineous turkish family has been reported (last curated november 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one consanguineous turkish family has been reported (last curated november 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3180. en:one family (4 affected members) has been reported (last curated july 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family (4 affected members) has been reported (last curated july 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3181. en:one family and 1 unrelated patient have been reported (last curated january 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family and 1 unrelated patient have been reported (last curated january 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3182. en:one family and 1 unrelated patient have been reported (last curated july 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family and 1 unrelated patient have been reported (last curated july 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3183. en:one family and an unrelated patient have been reported (last curated july 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family and an unrelated patient have been reported (last curated july 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3184. en:one family from hong kong has been reported (last curated october 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family from hong kong has been reported (last curated october 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3185. en:one family from punjab, india has been reported (last curated august 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family from punjab, india has been reported (last curated august 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3186. en:one family from the old order amish has been reported (last curated january 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family from the old order amish has been reported (last curated january 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3187. en:one family had normal cognitive and neurologic development --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family had normal cognitive and neurologic development | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3188. en:one family has been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3189. en:one family has been reported (as of 4/2010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (as of 4/2010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3190. en:one family has been reported (as of april 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (as of april 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3191. en:one family has been reported (as of august 2010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (as of august 2010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3192. en:one family has been reported (as of curation date may, 2013) onset in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (as of curation date may, 2013) onset in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3193. en:one family has been reported (as of january 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (as of january 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3194. en:one family has been reported (as of january 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (as of january 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3195. en:one family has been reported (as of july 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (as of july 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3196. en:one family has been reported (as of june 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (as of june 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3197. en:one family has been reported (as of october 2010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (as of october 2010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3198. en:one family has been reported (as of september 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (as of september 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3199. en:one family has been reported (last curated april 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (last curated april 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3200. en:one family has been reported (last curated august 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (last curated august 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3201. en:one family has been reported (last curated december 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (last curated december 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3202. en:one family has been reported (last curated december 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (last curated december 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3203. en:one family has been reported (last curated february 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (last curated february 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3204. en:one family has been reported (last curated february 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (last curated february 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3205. en:one family has been reported (last curated january 2010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (last curated january 2010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3206. en:one family has been reported (last curated january 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (last curated january 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3207. en:one family has been reported (last curated january 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (last curated january 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3208. en:one family has been reported (last curated july 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (last curated july 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3209. en:one family has been reported (last curated june 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (last curated june 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3210. en:one family has been reported (last curated june 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (last curated june 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3211. en:one family has been reported (last curated march 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (last curated march 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3212. en:one family has been reported (last curated march 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (last curated march 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3213. en:one family has been reported (last curated may 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (last curated may 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3214. en:one family has been reported (last curated november 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (last curated november 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3215. en:one family has been reported (last curated november 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (last curated november 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3216. en:one family has been reported (last curated november 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (last curated november 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3217. en:one family has been reported (last curated october 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (last curated october 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3218. en:one family has been reported (last curated october 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (last curated october 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3219. en:one family has been reported (last curated september 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (last curated september 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3220. en:one family has been reported (last curated september 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported (last curated september 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3221. en:one family has been reported and no additional clinical features were provided (last curated june 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported and no additional clinical features were provided (last curated june 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3222. en:one family has been reported with limited clinical information (last curated october 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family has been reported with limited clinical information (last curated october 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3223. en:one family of algerian descent has been reported (last curated february 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family of algerian descent has been reported (last curated february 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3224. en:one family of french-canadian origin has been reported (last curated august 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family of french-canadian origin has been reported (last curated august 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3225. en:one family of italian-american descent has been described --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family of italian-american descent has been described | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3226. en:one family of mali origin has been reported (last curated january 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family of mali origin has been reported (last curated january 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3227. en:one family of puerto rican descent has been reported (last curated january 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family of puerto rican descent has been reported (last curated january 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3228. en:one family reported (as of may 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family reported (as of may 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3229. en:one family reported (as of november 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family reported (as of november 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3230. en:one family reported (last curated january 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family reported (last curated january 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3231. en:one family reported (last curated july 2008) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family reported (last curated july 2008) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3232. en:one family reported (last curated june 2009) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family reported (last curated june 2009) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3233. en:one family reported (last curated may 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family reported (last curated may 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3234. en:one family reported (last curated november 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family reported (last curated november 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3235. en:one family reported (last curated november 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family reported (last curated november 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3236. en:one family reported with mutation in a heterozygous mutation in dlx5 (last curated october 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family reported with mutation in a heterozygous mutation in dlx5 (last curated october 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3237. en:one family reported with piezo2 mutation (last curated january 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family reported with piezo2 mutation (last curated january 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3238. en:one family with 2 affected brothers has been reported (last curated november 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family with 2 affected brothers has been reported (last curated november 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3239. en:one family with 2 affected fetuses has been reported (as of august 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family with 2 affected fetuses has been reported (as of august 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3240. en:one family with 2 patients has been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family with 2 patients has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3241. en:one family with 2 sisters have been reported (as of march 2010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family with 2 sisters have been reported (as of march 2010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3242. en:one family with 3 affected girls has been reported (as of october 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family with 3 affected girls has been reported (as of october 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3243. en:one family with 3 affected males has been reported (as of october 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family with 3 affected males has been reported (as of october 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3244. en:one family with 3 patients and 1 patient with sporadic disease have been reported (last curated june 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family with 3 patients and 1 patient with sporadic disease have been reported (last curated june 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3245. en:one family with 4 affected sibs has been reported (as of april 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family with 4 affected sibs has been reported (as of april 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3246. en:one family with 5 affected members has been reported (last curated september 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family with 5 affected members has been reported (last curated september 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3247. en:one family with 6 probands described (as of september 2000) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family with 6 probands described (as of september 2000) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3248. en:one family with a confirmed dcaf8 mutation has been reported (last curated june, 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family with a confirmed dcaf8 mutation has been reported (last curated june, 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3249. en:one family with a confirmed pathogenic atp2b3 mutation has been reported (last curated december 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family with a confirmed pathogenic atp2b3 mutation has been reported (last curated december 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3250. en:one family with a fatal subacute encephalopathy has been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family with a fatal subacute encephalopathy has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3251. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3252. en:one family with confirmed cecr1 mutation has been reported (last curated august 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family with confirmed cecr1 mutation has been reported (last curated august 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3253. en:one family with confirmed genetic basis has been reported (last curated september 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family with confirmed genetic basis has been reported (last curated september 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3254. en:one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3255. en:one french family has been reported (as of march 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one french family has been reported (as of march 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3256. en:one french family has been reported (last curated july 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one french family has been reported (last curated july 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3257. en:one french family has been reported (last curated march 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one french family has been reported (last curated march 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3258. en:one german family has been reported (as of september 2009) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one german family has been reported (as of september 2009) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3259. en:one highly consanguineous family has been reported (last curated may 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one highly consanguineous family has been reported (last curated may 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3260. en:one indian family has been reported (as of october 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one indian family has been reported (as of october 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3261. en:one individual carried a heterozygous mutation, whereas the other carried a homozygous mutation. --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one individual carried a heterozygous mutation, whereas the other carried a homozygous mutation. | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3262. en:one israeli arab family has been reported with ptprf mutation (last curated september 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one israeli arab family has been reported with ptprf mutation (last curated september 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3263. en:one italian family has been reported (last curated july 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one italian family has been reported (last curated july 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3264. en:one japanese family has been reported (last curated december 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one japanese family has been reported (last curated december 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3265. en:one japanese patient has been reported (last curated september 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one japanese patient has been reported (last curated september 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3266. en:one korean family has been reported (as of november 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one korean family has been reported (as of november 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3267. en:one large 3-generation irish family has been reported (last curated october 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one large 3-generation irish family has been reported (last curated october 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3268. en:one large 4-generation uruguayan family reported (last curated august 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one large 4-generation uruguayan family reported (last curated august 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3269. en:one large consanguineous arab muslim family has been reported (as of september 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one large consanguineous arab muslim family has been reported (as of september 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3270. en:one large consanguineous israeli bedouin kindred has been reported (last curated april 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one large consanguineous israeli bedouin kindred has been reported (last curated april 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3271. en:one large family has been reported (as of 2008) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one large family has been reported (as of 2008) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3272. en:one large family has been reported (last curated january 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one large family has been reported (last curated january 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3273. en:one large family has been reported (last curated june 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one large family has been reported (last curated june 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3274. en:one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3275. en:one large spanish family and 1 unrelated patient have been reported (last curated june 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one large spanish family and 1 unrelated patient have been reported (last curated june 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3276. en:one large swedish family has been reported (as of april 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one large swedish family has been reported (as of april 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3277. en:one likely consanguineous turkish family has been reported (last curated january 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one likely consanguineous turkish family has been reported (last curated january 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3278. en:one living patient and 1 unrelated fetus have been reported (last curated august, 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one living patient and 1 unrelated fetus have been reported (last curated august, 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3279. en:one male and 3 unrelated females have been reported (last curated october 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one male and 3 unrelated females have been reported (last curated october 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3280. en:one of the 2 most common forms of albinism in the world, along with oca2 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one of the 2 most common forms of albinism in the world, along with oca2 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3281. en:one of the 2 most common forms of oca in the world along with oca1 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one of the 2 most common forms of oca in the world along with oca1 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3282. en:one of the most common autoimmune diseases --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one of the most common autoimmune diseases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3283. en:one pakistani family has been reported (last curated october 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one pakistani family has been reported (last curated october 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3284. en:one pakistani family has been reported (last curated september 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one pakistani family has been reported (last curated september 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3285. en:one pakistani family reported (last curated november 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one pakistani family reported (last curated november 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3286. en:one pakistani reported (last curated november 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one pakistani reported (last curated november 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3287. en:one palestinian family has been described (last curated april 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one palestinian family has been described (last curated april 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3288. en:one patient (patient a) and 2 sibs have been reported (last curated february 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient (patient a) and 2 sibs have been reported (last curated february 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3289. en:one patient described (last curated december 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient described (last curated december 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3290. en:one patient described as having bbs, but with no clinical details has been reported (last curated october 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient described as having bbs, but with no clinical details has been reported (last curated october 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3291. en:one patient died at 17 months of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient died at 17 months of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3292. en:one patient died at age 7 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient died at age 7 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3293. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3294. en:one patient had onset at age 4 months after normal development --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient had onset at age 4 months after normal development | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3295. en:one patient had onset at birth and a more severe disorder resulting in death at a young age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient had onset at birth and a more severe disorder resulting in death at a young age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3296. en:one patient has been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3297. en:one patient has been reported (as of april 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient has been reported (as of april 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3298. en:one patient has been reported (as of august 2010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient has been reported (as of august 2010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3299. en:one patient has been reported (as of august 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient has been reported (as of august 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3300. en:one patient has been reported (as of curation date may, 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient has been reported (as of curation date may, 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3301. en:one patient has been reported (as of december 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient has been reported (as of december 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3302. en:one patient has been reported (as of february 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient has been reported (as of february 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3303. en:one patient has been reported (as of january 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient has been reported (as of january 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3304. en:one patient has been reported (as of july 2010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient has been reported (as of july 2010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3305. en:one patient has been reported (as of march 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient has been reported (as of march 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3306. en:one patient has been reported (as of may 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient has been reported (as of may 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3307. en:one patient has been reported (as of sept 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient has been reported (as of sept 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3308. en:one patient has been reported (last curated april 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient has been reported (last curated april 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3309. en:one patient has been reported (last curated december 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient has been reported (last curated december 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3310. en:one patient has been reported (last curated february 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient has been reported (last curated february 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3311. en:one patient has been reported (last curated january 2010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient has been reported (last curated january 2010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3312. en:one patient has been reported (last curated january 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient has been reported (last curated january 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3313. en:one patient has been reported (last curated july 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient has been reported (last curated july 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3314. en:one patient has been reported (last curated july 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient has been reported (last curated july 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3315. en:one patient has been reported (last curated june 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient has been reported (last curated june 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3316. en:one patient has been reported (last curated may 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient has been reported (last curated may 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3317. en:one patient has been reported (last curated november 2010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient has been reported (last curated november 2010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3318. en:one patient has been reported (last curated november 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient has been reported (last curated november 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3319. en:one patient has been reported (last curated november 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient has been reported (last curated november 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3320. en:one patient has been reported (last curated october 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient has been reported (last curated october 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3321. en:one patient has been reported (last curated september 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient has been reported (last curated september 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3322. en:one patient has had favorable response to high dose coenzyme q10 supplementation in combination with other medications --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient has had favorable response to high dose coenzyme q10 supplementation in combination with other medications | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3323. en:one patient reported (last curated november 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient reported (last curated november 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3324. en:one patient reported with col3a1 mutation (120180.0020) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient reported with col3a1 mutation (120180.0020) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3325. en:one patient reported with slitrk1 mutation (as of january 2010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient reported with slitrk1 mutation (as of january 2010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3326. en:one patient showed improvement and was thriving at 46 months of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient showed improvement and was thriving at 46 months of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3327. en:one patient studied at molecular level (as of july 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient studied at molecular level (as of july 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3328. en:one patient was less severely affected --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient was less severely affected | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3329. en:one patient who died at 5.5 months of age has been reported (last curated december 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient who died at 5.5 months of age has been reported (last curated december 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3330. en:one patient with a homozygous mutation has been reported (as of 14 june 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient with a homozygous mutation has been reported (as of 14 june 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3331. en:one patient with a point mutation in the zbtb18 gene has been reported (last curated november 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient with a point mutation in the zbtb18 gene has been reported (last curated november 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3332. en:one patient with additional features of fanconi anemia has been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient with additional features of fanconi anemia has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3333. en:one patient with episodic ataxia and later onset has been reported (as of june 2010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient with episodic ataxia and later onset has been reported (as of june 2010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3334. en:one patient with limited clinical information has been reported (last curated october 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient with limited clinical information has been reported (last curated october 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3335. en:one patient with normal cognition has been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient with normal cognition has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3336. en:one patient with normal psychomotor development has been reported (last curated december 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient with normal psychomotor development has been reported (last curated december 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3337. en:one patient with severe congenital onset has been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one patient with severe congenital onset has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3338. en:one report of brother and sister from nonconsanguineous parents --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one report of brother and sister from nonconsanguineous parents | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3339. en:one report of mother and son (last curated august 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one report of mother and son (last curated august 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3340. en:one spanish family has been reported (last curated august 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one spanish family has been reported (last curated august 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3341. en:one such patient has been reported (last curated january 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one such patient has been reported (last curated january 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3342. en:one swiss family with 19 affected individuals has been described (last curated february 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one swiss family with 19 affected individuals has been described (last curated february 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3343. en:one third of patients represent new mutations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one third of patients represent new mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3344. en:one turkish girl has been reported (last curated april 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one turkish girl has been reported (last curated april 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3345. en:one-third of cases are familial --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one-third of cases are familial | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3346. en:one-third of cases are sporadic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:one-third of cases are sporadic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3347. en:only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3348. en:only 10% develop hypertension at 18 years of age or less --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:only 10% develop hypertension at 18 years of age or less | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3349. en:only 13% develop hypertension at 18 years of age or less --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:only 13% develop hypertension at 18 years of age or less | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3350. en:only 46,xy individuals are affected --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:only 46,xy individuals are affected | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3351. en:only apparent in patients taking eculizumab --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:only apparent in patients taking eculizumab | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3352. en:only female patients reported (last curated october 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:only female patients reported (last curated october 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3353. en:only some patients showed neurologic involvement --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:only some patients showed neurologic involvement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3354. en:only women have been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:only women have been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3355. en:onset - present at birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset - present at birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3356. en:onset 0-12 hours after birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset 0-12 hours after birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3357. en:onset 1-12 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset 1-12 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3358. en:onset 1-70 years of age (95% by early 50's) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset 1-70 years of age (95% by early 50's) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3359. en:onset 10-20 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset 10-20 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3360. en:onset 13 to 63 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset 13 to 63 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3361. en:onset 13-15 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset 13-15 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3362. en:onset 14 months to 4 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset 14 months to 4 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3363. en:onset 2-4 years of age in iia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset 2-4 years of age in iia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3364. en:onset 20-55 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset 20-55 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3365. en:onset 23 to 30 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset 23 to 30 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3366. en:onset 3 months of age up to 5 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset 3 months of age up to 5 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3367. en:onset 30-40 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset 30-40 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3368. en:onset 3rd to 4th decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset 3rd to 4th decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3369. en:onset 5 to 10 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset 5 to 10 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3370. en:onset 5 to 7 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset 5 to 7 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3371. en:onset 5-30 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset 5-30 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3372. en:onset 50 to 65 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset 50 to 65 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3373. en:onset 6 months to 2.5 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset 6 months to 2.5 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3374. en:onset 6 to 12 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset 6 to 12 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3375. en:onset 6 to 18 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset 6 to 18 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3376. en:onset 6 to 30 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset 6 to 30 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3377. en:onset 6-13 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset 6-13 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3378. en:onset 7 to 15 months of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset 7 to 15 months of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3379. en:onset 70-90 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset 70-90 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3380. en:onset 8-20 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset 8-20 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3381. en:onset <30 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset <30 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3382. en:onset about 6 months of age after normal growth and development in the first few months of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset about 6 months of age after normal growth and development in the first few months of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3383. en:onset after age 40 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset after age 40 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3384. en:onset after puberty --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset after puberty | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3385. en:onset after third decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset after third decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3386. en:onset age 14-28 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset age 14-28 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3387. en:onset age 15-25 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset age 15-25 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3388. en:onset age 2 to 7 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset age 2 to 7 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3389. en:onset age 20 to 51 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset age 20 to 51 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3390. en:onset age 32 to 45 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset age 32 to 45 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3391. en:onset ages 2 to 14 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset ages 2 to 14 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3392. en:onset and diagnosis may occur later (after age 20 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset and diagnosis may occur later (after age 20 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3393. en:onset around adolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset around adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3394. en:onset around adolescence in males --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset around adolescence in males | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3395. en:onset around age 2 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset around age 2 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3396. en:onset around puberty --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset around puberty | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3397. en:onset as neonate --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset as neonate | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3398. en:onset at 2 to 15 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset at 2 to 15 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3399. en:onset at 2 to 4 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset at 2 to 4 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3400. en:onset at 4 to 10 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset at 4 to 10 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3401. en:onset at 4 to 7 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset at 4 to 7 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3402. en:onset at 4 to 9 weeks of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset at 4 to 9 weeks of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3403. en:onset at 4 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset at 4 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3404. en:onset at 5-24 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset at 5-24 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3405. en:onset at 6-36 hours of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset at 6-36 hours of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3406. en:onset at 6-9 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset at 6-9 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3407. en:onset at age 10 to 14 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset at age 10 to 14 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3408. en:onset at age 3-5 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset at age 3-5 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3409. en:onset at age 36 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset at age 36 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3410. en:onset at age 5 to 15 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset at age 5 to 15 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3411. en:onset at age 5 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset at age 5 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3412. en:onset at birth or early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset at birth or early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3413. en:onset at birth or early infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset at birth or early infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3414. en:onset at birth or in first days or life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset at birth or in first days or life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3415. en:onset at birth or in first months of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset at birth or in first months of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3416. en:onset at day 1 of life has been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset at day 1 of life has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3417. en:onset at early age, associated with sudden death in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset at early age, associated with sudden death in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3418. en:onset at or soon after birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset at or soon after birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3419. en:onset before 10 years of age in all patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset before 10 years of age in all patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3420. en:onset before 18 months of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset before 18 months of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3421. en:onset before 50 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset before 50 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3422. en:onset before adolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset before adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3423. en:onset before age 2 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset before age 2 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3424. en:onset before age 20 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset before age 20 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3425. en:onset before age 20 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset before age 20 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3426. en:onset before age 3 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset before age 3 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3427. en:onset before age 40 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset before age 40 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3428. en:onset before age 5 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset before age 5 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3429. en:onset before age 5 years in the absence of instruction --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset before age 5 years in the absence of instruction | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3430. en:onset between 1-3 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between 1-3 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3431. en:onset between 10 and 20 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between 10 and 20 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3432. en:onset between 12 and 30 years (average 22) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between 12 and 30 years (average 22) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3433. en:onset between 13 to 37 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between 13 to 37 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3434. en:onset between 15 and 27 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between 15 and 27 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3435. en:onset between 18 and 65 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between 18 and 65 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3436. en:onset between 2 and 4 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between 2 and 4 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3437. en:onset between 2 to 20 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between 2 to 20 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3438. en:onset between 2-5 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between 2-5 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3439. en:onset between 28 and 42 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between 28 and 42 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3440. en:onset between 3 and 11 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between 3 and 11 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3441. en:onset between 3 and 6 months of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between 3 and 6 months of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3442. en:onset between 34 and 51 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between 34 and 51 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3443. en:onset between 5 and 20 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between 5 and 20 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3444. en:onset between 5 to 28 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between 5 to 28 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3445. en:onset between 6 and 12 months of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between 6 and 12 months of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3446. en:onset between 6 and 14 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between 6 and 14 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3447. en:onset between 6 and 15 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between 6 and 15 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3448. en:onset between 6 and 16 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between 6 and 16 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3449. en:onset between 6 and 9 months after normal early development --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between 6 and 9 months after normal early development | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3450. en:onset between 7 and 18 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between 7 and 18 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3451. en:onset between 7 and 27 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between 7 and 27 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3452. en:onset between 8 and 30 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between 8 and 30 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3453. en:onset between 9 and 16 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between 9 and 16 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3454. en:onset between age 2 and 15 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between age 2 and 15 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3455. en:onset between age 30-50 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between age 30-50 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3456. en:onset between age 4 to 7 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between age 4 to 7 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3457. en:onset between ages 1 to 3 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between ages 1 to 3 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3458. en:onset between ages 10 and 25 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between ages 10 and 25 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3459. en:onset between ages 12 and 20 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between ages 12 and 20 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3460. en:onset between ages 16-55 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between ages 16-55 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3461. en:onset between ages 5 and 15 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between ages 5 and 15 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3462. en:onset between birth and 3 months of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between birth and 3 months of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3463. en:onset between second to sixth decades of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between second to sixth decades of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3464. en:onset between the second and sixth decades --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset between the second and sixth decades | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3465. en:onset beyond the second year of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset beyond the second year of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3466. en:onset bimodal, ages 16-22 and ages 57-60 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset bimodal, ages 16-22 and ages 57-60 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3467. en:onset birth to 6 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset birth to 6 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3468. en:onset birth to early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset birth to early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3469. en:onset birth to early infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset birth to early infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3470. en:onset by 1 year of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset by 1 year of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3471. en:onset by 3 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset by 3 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3472. en:onset by age 2 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset by age 2 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3473. en:onset day of life 1-10 in infants fed lactose-containing milk --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset day of life 1-10 in infants fed lactose-containing milk | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3474. en:onset early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3475. en:onset early in first decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset early in first decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3476. en:onset first to seventh decade with 30 to 40 year mode --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset first to seventh decade with 30 to 40 year mode | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3477. en:onset in 1st to 3rd decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in 1st to 3rd decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3478. en:onset in adolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3479. en:onset in adolescence or adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in adolescence or adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3480. en:onset in adolescence or adulthood has been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in adolescence or adulthood has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3481. en:onset in adolescence or young adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in adolescence or young adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3482. en:onset in adolescence or young adulthood has been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in adolescence or young adulthood has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3483. en:onset in adolescence to early adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in adolescence to early adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3484. en:onset in adulthood (third to fourth decade) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in adulthood (third to fourth decade) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3485. en:onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3486. en:onset in childhood (3 to 10 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood (3 to 10 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3487. en:onset in childhood (5 to 10 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood (5 to 10 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3488. en:onset in childhood (6-7 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood (6-7 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3489. en:onset in childhood (ages 1.5 to 7 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood (ages 1.5 to 7 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3490. en:onset in childhood (later than in antenatal bartter syndrome 241200) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood (later than in antenatal bartter syndrome 241200) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3491. en:onset in childhood (mean 6 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood (mean 6 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3492. en:onset in childhood (mean age 10 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood (mean age 10 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3493. en:onset in childhood (range 0.5 to 7 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood (range 0.5 to 7 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3494. en:onset in childhood (range 1 to 12 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood (range 1 to 12 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3495. en:onset in childhood (range 1 to 9 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood (range 1 to 9 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3496. en:onset in childhood (range 2 to 16 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood (range 2 to 16 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3497. en:onset in childhood (range 4 to 12 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood (range 4 to 12 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3498. en:onset in childhood (range infancy to 10 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood (range infancy to 10 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3499. en:onset in childhood (usually before age 5 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood (usually before age 5 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3500. en:onset in childhood of blistering and pigmentary changes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood of blistering and pigmentary changes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3501. en:onset in childhood or adolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood or adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3502. en:onset in childhood or adolescence (mean age of 6 years, range 1 to 18) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood or adolescence (mean age of 6 years, range 1 to 18) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3503. en:onset in childhood or adolescence (median age of 9 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood or adolescence (median age of 9 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3504. en:onset in childhood or adolescence (range 6 to 15 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood or adolescence (range 6 to 15 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3505. en:onset in childhood or adolescence in most patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood or adolescence in most patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3506. en:onset in childhood or as young adult --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood or as young adult | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3507. en:onset in childhood or early adolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood or early adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3508. en:onset in childhood or early adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood or early adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3509. en:onset in childhood or second decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood or second decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3510. en:onset in childhood or teenage years (7 to 16 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood or teenage years (7 to 16 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3511. en:onset in childhood or young adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood or young adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3512. en:onset in childhood or youth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood or youth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3513. en:onset in childhood, adolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood, adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3514. en:onset in childhood, adolescence, and adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood, adolescence, and adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3515. en:onset in childhood, but most noticeable in mid-teens and early adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in childhood, but most noticeable in mid-teens and early adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3516. en:onset in early adulthood (average 26 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in early adulthood (average 26 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3517. en:onset in early childhood (2-4 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in early childhood (2-4 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3518. en:onset in early childhood (4 to 5 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in early childhood (4 to 5 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3519. en:onset in early childhood (age 3) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in early childhood (age 3) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3520. en:onset in early childhood (infancy to 5 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in early childhood (infancy to 5 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3521. en:onset in early childhood (infancy to 6 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in early childhood (infancy to 6 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3522. en:onset in early childhood (infancy to age 7 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in early childhood (infancy to age 7 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3523. en:onset in early childhood after initial normal development --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in early childhood after initial normal development | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3524. en:onset in early childhood or adolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in early childhood or adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3525. en:onset in early childhood to puberty --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in early childhood to puberty | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3526. en:onset in early first decade, although some patients have onset at birth or early in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in early first decade, although some patients have onset at birth or early in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3527. en:onset in early infancy (2 to 3 months of age) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in early infancy (2 to 3 months of age) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3528. en:onset in early infancy, between 2 weeks and 3 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in early infancy, between 2 weeks and 3 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3529. en:onset in early to late childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in early to late childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3530. en:onset in early twenties --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in early twenties | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3531. en:onset in feet and legs (peroneal distribution) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in feet and legs (peroneal distribution) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3532. en:onset in females ranges from third to seventh decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in females ranges from third to seventh decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3533. en:onset in fifth or sixth decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in fifth or sixth decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3534. en:onset in fifties or sixties --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in fifties or sixties | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3535. en:onset in first 2 decades --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in first 2 decades | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3536. en:onset in first 2 decades (range 6 to 15 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in first 2 decades (range 6 to 15 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3537. en:onset in first 2 decades of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in first 2 decades of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3538. en:onset in first 6 months of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in first 6 months of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3539. en:onset in first 8 weeks of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in first 8 weeks of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3540. en:onset in first and second decades --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in first and second decades | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3541. en:onset in first days of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in first days of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3542. en:onset in first decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in first decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3543. en:onset in first decade (average 5 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in first decade (average 5 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3544. en:onset in first decade (birth to 6 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in first decade (birth to 6 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3545. en:onset in first decade (birth to age 5 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in first decade (birth to age 5 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3546. en:onset in first decade (e.g. 180380.0028) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in first decade (e.g. 180380.0028) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3547. en:onset in first decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in first decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3548. en:onset in first decades (males) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in first decades (males) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3549. en:onset in first few years of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in first few years of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3550. en:onset in first hours to days of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in first hours to days of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3551. en:onset in first month of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in first month of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3552. en:onset in first months of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in first months of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3553. en:onset in first months or years of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in first months or years of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3554. en:onset in first or second decade (range 4 to 13 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in first or second decade (range 4 to 13 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3555. en:onset in first or second decades --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in first or second decades | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3556. en:onset in first weeks or months of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in first weeks or months of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3557. en:onset in first weeks to months of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in first weeks to months of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3558. en:onset in fourth and fifth decades --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in fourth and fifth decades | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3559. en:onset in fourth decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in fourth decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3560. en:onset in fourth to fifth decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in fourth to fifth decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3561. en:onset in fourth to sixth decades --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in fourth to sixth decades | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3562. en:onset in infancy (1-2 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in infancy (1-2 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3563. en:onset in infancy (3 months on) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in infancy (3 months on) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3564. en:onset in infancy (3 to 7 months) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in infancy (3 to 7 months) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3565. en:onset in infancy (average 4 months, but may be earlier) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in infancy (average 4 months, but may be earlier) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3566. en:onset in infancy (first hours to weeks of life) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in infancy (first hours to weeks of life) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3567. en:onset in infancy (first year of life) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in infancy (first year of life) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3568. en:onset in infancy after normal birth and neonatal period --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in infancy after normal birth and neonatal period | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3569. en:onset in infancy after weaning --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in infancy after weaning | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3570. en:onset in infancy after weaning from being breast-fed --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in infancy after weaning from being breast-fed | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3571. en:onset in infancy and early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in infancy and early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3572. en:onset in infancy and third decade had been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in infancy and third decade had been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3573. en:onset in infancy of acute hypoglycemic episodes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in infancy of acute hypoglycemic episodes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3574. en:onset in infancy or at birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in infancy or at birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3575. en:onset in infancy or childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in infancy or childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3576. en:onset in infancy or childhood (range 1 to 13 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in infancy or childhood (range 1 to 13 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3577. en:onset in infancy or childhood (range 1 to 6 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in infancy or childhood (range 1 to 6 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3578. en:onset in infancy or early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in infancy or early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3579. en:onset in infancy or early childhood (before age 3 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in infancy or early childhood (before age 3 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3580. en:onset in infancy or early childhood (birth to 6 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in infancy or early childhood (birth to 6 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3581. en:onset in infancy or first years of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in infancy or first years of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3582. en:onset in infancy or late childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in infancy or late childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3583. en:onset in infancy up to 3 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in infancy up to 3 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3584. en:onset in infancy was reported in 1 family --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in infancy was reported in 1 family | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3585. en:onset in infancy, but may not be diagnosed until later in mild cases --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in infancy, but may not be diagnosed until later in mild cases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3586. en:onset in late adulthood (44 to 73 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in late adulthood (44 to 73 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3587. en:onset in late childhood or adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in late childhood or adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3588. en:onset in late childhood or early teens --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in late childhood or early teens | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3589. en:onset in late childhood/adolescence (approximately 15 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in late childhood/adolescence (approximately 15 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3590. en:onset in late infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in late infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3591. en:onset in late teens to early forties --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in late teens to early forties | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3592. en:onset in late teens to twenties --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in late teens to twenties | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3593. en:onset in late twenties --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in late twenties | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3594. en:onset in late twenties to thirties --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in late twenties to thirties | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3595. en:onset in late-childhood to early adulthood (12 to 20 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in late-childhood to early adulthood (12 to 20 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3596. en:onset in lower limbs --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in lower limbs | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3597. en:onset in males in first to third decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in males in first to third decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3598. en:onset in mid to late childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in mid to late childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3599. en:onset in mid-adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in mid-adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3600. en:onset in middle age (44 to 60 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in middle age (44 to 60 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3601. en:onset in neonatal period or before age 2 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in neonatal period or before age 2 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3602. en:onset in neonatal period or early infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in neonatal period or early infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3603. en:onset in neonatal period or infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in neonatal period or infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3604. en:onset in newborns or infants --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in newborns or infants | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3605. en:onset in second and third decades --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in second and third decades | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3606. en:onset in second decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in second decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3607. en:onset in second decade or as young adult --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in second decade or as young adult | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3608. en:onset in second decade or unilateral involvement indicates a diagnosis of 'progressive cribriform and zosteriform hyperpigmentation' (pczh) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in second decade or unilateral involvement indicates a diagnosis of 'progressive cribriform and zosteriform hyperpigmentation' (pczh) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3609. en:onset in second decade, but sometimes earlier --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in second decade, but sometimes earlier | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3610. en:onset in second half of the first decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in second half of the first decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3611. en:onset in second or third decades --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in second or third decades | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3612. en:onset in second to fifth decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in second to fifth decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3613. en:onset in second to fourth decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in second to fourth decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3614. en:onset in second to third decades (postlingual) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in second to third decades (postlingual) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3615. en:onset in teenage or young adult years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in teenage or young adult years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3616. en:onset in teenage years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in teenage years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3617. en:onset in teens has been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in teens has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3618. en:onset in teens or young adulthood (range 13 to 45 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in teens or young adulthood (range 13 to 45 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3619. en:onset in teens to 20's --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in teens to 20's | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3620. en:onset in teens to late twenties (range 14 to 44 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in teens to late twenties (range 14 to 44 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3621. en:onset in the 3rd decade of life or later --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in the 3rd decade of life or later | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3622. en:onset in the first 2 years of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in the first 2 years of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3623. en:onset in the first decade (range birth to 8 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in the first decade (range birth to 8 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3624. en:onset in the first few months of life patients may need lifelong total parenteral nutrition --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in the first few months of life patients may need lifelong total parenteral nutrition | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3625. en:onset in the first hours or days of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in the first hours or days of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3626. en:onset in the first months of life (3 to 7 months) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in the first months of life (3 to 7 months) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3627. en:onset in the first or second decades of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in the first or second decades of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3628. en:onset in the fourth to sixth decades (mean 40 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in the fourth to sixth decades (mean 40 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3629. en:onset in the neonatal period (0-38 days) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in the neonatal period (0-38 days) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3630. en:onset in the perinatal period --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in the perinatal period | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3631. en:onset in the second or third decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in the second or third decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3632. en:onset in the second to fourth decades of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in the second to fourth decades of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3633. en:onset in the sixth or seventh decades --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in the sixth or seventh decades | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3634. en:onset in third decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in third decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3635. en:onset in third or fourth decades --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in third or fourth decades | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3636. en:onset in third to fourth decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in third to fourth decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3637. en:onset in utero or at birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in utero or at birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3638. en:onset in utero or in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in utero or in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3639. en:onset in utero, infancy, or early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in utero, infancy, or early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3640. en:onset in young adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in young adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3641. en:onset in young adulthood (range 18 to 23 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in young adulthood (range 18 to 23 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3642. en:onset in young adulthood or adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset in young adulthood or adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3643. en:onset is usually in childhood or adolescence (2 to 18 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset is usually in childhood or adolescence (2 to 18 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3644. en:onset late childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset late childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3645. en:onset late childhood (8 to 14 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset late childhood (8 to 14 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3646. en:onset may also occur in early infancy, adolescence, or adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset may also occur in early infancy, adolescence, or adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3647. en:onset may be precipitated by viral infection, reye-like episode following ingestion of aspirin --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset may be precipitated by viral infection, reye-like episode following ingestion of aspirin | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3648. en:onset may be prelingual or in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset may be prelingual or in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3649. en:onset may occur in adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset may occur in adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3650. en:onset mid to late adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset mid to late adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3651. en:onset occurs earlier in males than females --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset occurs earlier in males than females | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3652. en:onset of abnormal eye movements in early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of abnormal eye movements in early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3653. en:onset of acanthosis nigricans correlates with onset of diabetes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of acanthosis nigricans correlates with onset of diabetes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3654. en:onset of achalasia in infancy or early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of achalasia in infancy or early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3655. en:onset of acne in adolescence, persists into adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of acne in adolescence, persists into adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3656. en:onset of acute encephalopathic attacks in childhood (3 to 7 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of acute encephalopathic attacks in childhood (3 to 7 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3657. en:onset of alopecia in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of alopecia in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3658. en:onset of arthritis in early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of arthritis in early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3659. en:onset of ataxia and neuropathy in early twenties --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of ataxia and neuropathy in early twenties | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3660. en:onset of ataxia between 1 and 3 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of ataxia between 1 and 3 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3661. en:onset of ataxia in early childhood (range 15 months to 3 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of ataxia in early childhood (range 15 months to 3 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3662. en:onset of ataxia in the fifties --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of ataxia in the fifties | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3663. en:onset of autoinflammation in infancy or first few years of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of autoinflammation in infancy or first few years of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3664. en:onset of bleeding in infancy or early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of bleeding in infancy or early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3665. en:onset of bleeding symptoms in childhood or young adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of bleeding symptoms in childhood or young adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3666. en:onset of bone disease in second decade (range 18-44 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of bone disease in second decade (range 18-44 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3667. en:onset of bone fragility in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of bone fragility in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3668. en:onset of calf hypotrophy may occur earlier --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of calf hypotrophy may occur earlier | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3669. en:onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3670. en:onset of cardiac symptoms in adolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of cardiac symptoms in adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3671. en:onset of cardiomyopathy may occur several months after birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of cardiomyopathy may occur several months after birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3672. en:onset of cataracts in late adolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of cataracts in late adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3673. en:onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3674. en:onset of choreoathetosis in childhood or young adult (6-23 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of choreoathetosis in childhood or young adult (6-23 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3675. en:onset of choroideremia in second to third decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of choroideremia in second to third decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3676. en:onset of chronic progressive polyneuropathy in late childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of chronic progressive polyneuropathy in late childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3677. en:onset of clinical features around puberty --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of clinical features around puberty | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3678. en:onset of contractures in utero --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of contractures in utero | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3679. en:onset of cough in early adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of cough in early adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3680. en:onset of crises in early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of crises in early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3681. en:onset of deafness and diabetes in adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of deafness and diabetes in adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3682. en:onset of deafness in early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of deafness in early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3683. en:onset of dementia in the thirties or forties --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of dementia in the thirties or forties | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3684. en:onset of diabetes in neonatal period/ early infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of diabetes in neonatal period/ early infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3685. en:onset of diabetes in teenage years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of diabetes in teenage years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3686. en:onset of dilated cardiomyopathy less than 3 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of dilated cardiomyopathy less than 3 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3687. en:onset of disease 3-30 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of disease 3-30 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3688. en:onset of disease 3-8 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of disease 3-8 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3689. en:onset of disease 7 months to 3 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of disease 7 months to 3 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3690. en:onset of disease after fourth decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of disease after fourth decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3691. en:onset of disease around 10 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of disease around 10 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3692. en:onset of disease before 7 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of disease before 7 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3693. en:onset of disease between 25 and 40 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of disease between 25 and 40 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3694. en:onset of disease in fourth or fifth decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of disease in fourth or fifth decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3695. en:onset of disease in late childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of disease in late childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3696. en:onset of disease within the first year of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of disease within the first year of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3697. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3698. en:onset of dysmorphic features and developmental delay in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of dysmorphic features and developmental delay in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3699. en:onset of dystonia at 12 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of dystonia at 12 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3700. en:onset of dystonia is in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of dystonia is in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3701. en:onset of edema in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of edema in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3702. en:onset of encephalopathy between ages 2 and 3 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of encephalopathy between ages 2 and 3 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3703. en:onset of end-stage renal disease 15 to 20 years after onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of end-stage renal disease 15 to 20 years after onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3704. en:onset of epiphyseal dysplasia and growth retardation in first 2 years of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of epiphyseal dysplasia and growth retardation in first 2 years of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3705. en:onset of essential tremor between 16 and 44 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of essential tremor between 16 and 44 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3706. en:onset of febrile seizures typically between 6 months and 6 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of febrile seizures typically between 6 months and 6 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3707. en:onset of fracture usually when child begins to walk --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of fracture usually when child begins to walk | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3708. en:onset of fractures 4-18 months of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of fractures 4-18 months of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3709. en:onset of fractures in infancy to early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of fractures in infancy to early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3710. en:onset of gait abnormalities at 8 to 40 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of gait abnormalities at 8 to 40 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3711. en:onset of gastrointestinal tumors typically occurs in the second decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of gastrointestinal tumors typically occurs in the second decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3712. en:onset of gaze palsy at birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of gaze palsy at birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3713. en:onset of hand involvement at 14 to 60 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of hand involvement at 14 to 60 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3714. en:onset of hearing loss in adolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of hearing loss in adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3715. en:onset of hearing loss in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of hearing loss in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3716. en:onset of hearing loss in childhood (range 7 to 13 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of hearing loss in childhood (range 7 to 13 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3717. en:onset of hearing loss in first or second decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of hearing loss in first or second decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3718. en:onset of hearing loss in late childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of hearing loss in late childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3719. en:onset of hearing loss in late childhood or adolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of hearing loss in late childhood or adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3720. en:onset of hearing loss in second decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of hearing loss in second decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3721. en:onset of hearing loss prior to or during adolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of hearing loss prior to or during adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3722. en:onset of hearing loss ranges from childhood to young adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of hearing loss ranges from childhood to young adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3723. en:onset of hematologic or cns tumors in the first or second decades of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of hematologic or cns tumors in the first or second decades of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3724. en:onset of hemolytic anemia shortly after birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of hemolytic anemia shortly after birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3725. en:onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3726. en:onset of hyperuricemia or gout in young adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of hyperuricemia or gout in young adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3727. en:onset of hypoglycemia and hyperinsulinism in the neonatal period --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of hypoglycemia and hyperinsulinism in the neonatal period | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3728. en:onset of illness often associated with acute infection --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of illness often associated with acute infection | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3729. en:onset of insulin resistance may occur in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of insulin resistance may occur in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3730. en:onset of joint contractures later in life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of joint contractures later in life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3731. en:onset of joint pain in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of joint pain in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3732. en:onset of kyphosis in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of kyphosis in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3733. en:onset of linear striations between 5 months and 6 years (only in affected females) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of linear striations between 5 months and 6 years (only in affected females) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3734. en:onset of lipodystrophy in early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of lipodystrophy in early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3735. en:onset of lipodystrophy later in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of lipodystrophy later in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3736. en:onset of liver involvement in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of liver involvement in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3737. en:onset of lymphedema before puberty --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of lymphedema before puberty | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3738. en:onset of macrocephaly in the first year of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of macrocephaly in the first year of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3739. en:onset of major clinical features in young adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of major clinical features in young adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3740. en:onset of malignancy can occur throughout life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of malignancy can occur throughout life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3741. en:onset of mental impairment in early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of mental impairment in early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3742. en:onset of mild symptoms in first or second decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of mild symptoms in first or second decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3743. en:onset of motor disturbances in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of motor disturbances in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3744. en:onset of muscle weakness around age 5 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of muscle weakness around age 5 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3745. en:onset of muscle weakness in early childhood, usually before age 10 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of muscle weakness in early childhood, usually before age 10 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3746. en:onset of muscle weakness in fifth decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of muscle weakness in fifth decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3747. en:onset of myoclonus later in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of myoclonus later in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3748. en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3749. en:onset of neurologic disease in early adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of neurologic disease in early adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3750. en:onset of neurologic events can occur between 4 and 35 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of neurologic events can occur between 4 and 35 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3751. en:onset of neurologic features is variable, even within the same family (range early childhood to adult) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of neurologic features is variable, even within the same family (range early childhood to adult) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3752. en:onset of neurologic symptoms often by 30 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of neurologic symptoms often by 30 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3753. en:onset of neuromuscular symptoms between 6 months and 1 year of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of neuromuscular symptoms between 6 months and 1 year of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3754. en:onset of normal pressure hydrocephalus after age 65 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of normal pressure hydrocephalus after age 65 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3755. en:onset of optic atrophy in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of optic atrophy in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3756. en:onset of optic atrophy in infancy or early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of optic atrophy in infancy or early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3757. en:onset of optic neuropathy is usually in early adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of optic neuropathy is usually in early adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3758. en:onset of osteoarthritis in teens to early adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of osteoarthritis in teens to early adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3759. en:onset of other symptoms in adolescence or early adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of other symptoms in adolescence or early adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3760. en:onset of palmoplantar hyperkeratosis 7-8 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of palmoplantar hyperkeratosis 7-8 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3761. en:onset of parkinsonism in early twenties --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of parkinsonism in early twenties | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3762. en:onset of parkinsonism in first decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of parkinsonism in first decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3763. en:onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3764. en:onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3765. en:onset of progressive spastic paraplegia in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of progressive spastic paraplegia in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3766. en:onset of proteinuria in the second to fourth decades --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of proteinuria in the second to fourth decades | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3767. en:onset of proteinuria in the third to fourth decades --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of proteinuria in the third to fourth decades | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3768. en:onset of renal dysfunction in early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of renal dysfunction in early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3769. en:onset of renal failure in adulthood (range twenties to fifties) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of renal failure in adulthood (range twenties to fifties) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3770. en:onset of scoliosis as early as 2 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of scoliosis as early as 2 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3771. en:onset of seizures around 7 to 12 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of seizures around 7 to 12 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3772. en:onset of seizures at 2-8 days of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of seizures at 2-8 days of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3773. en:onset of seizures before age 2 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of seizures before age 2 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3774. en:onset of seizures between 8 and 11 months of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of seizures between 8 and 11 months of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3775. en:onset of seizures between 9 and 12 months of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of seizures between 9 and 12 months of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3776. en:onset of seizures in first 6 months of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of seizures in first 6 months of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3777. en:onset of seizures in first months of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of seizures in first months of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3778. en:onset of seizures in first months of life (usually 4 to 7 months) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of seizures in first months of life (usually 4 to 7 months) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3779. en:onset of seizures in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of seizures in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3780. en:onset of seizures in infancy or early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of seizures in infancy or early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3781. en:onset of seizures in later childhood (5 to 10 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of seizures in later childhood (5 to 10 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3782. en:onset of seizures ranges from 2 to 11 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of seizures ranges from 2 to 11 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3783. en:onset of sensory neuropathy in later adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of sensory neuropathy in later adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3784. en:onset of skin lesions at birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of skin lesions at birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3785. en:onset of skin manifestations from birth to puberty --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of skin manifestations from birth to puberty | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3786. en:onset of sleep terrors between age 4 and 12 years old --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of sleep terrors between age 4 and 12 years old | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3787. en:onset of sleepwalking between 4 and 8 years old --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of sleepwalking between 4 and 8 years old | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3788. en:onset of slowly progressive spastic paraplegia in first or second decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of slowly progressive spastic paraplegia in first or second decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3789. en:onset of spastic paraplegia in first year of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of spastic paraplegia in first year of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3790. en:onset of spasticity by age 2 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of spasticity by age 2 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3791. en:onset of spasticity in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of spasticity in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3792. en:onset of symptoms 2-12 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of symptoms 2-12 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3793. en:onset of symptoms 2-4 weeks of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of symptoms 2-4 weeks of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3794. en:onset of symptoms 2-6 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of symptoms 2-6 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3795. en:onset of symptoms after age 5 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of symptoms after age 5 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3796. en:onset of symptoms age 5-30 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of symptoms age 5-30 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3797. en:onset of symptoms at 2-4 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of symptoms at 2-4 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3798. en:onset of symptoms between ages 3-8 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of symptoms between ages 3-8 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3799. en:onset of symptoms in childhood with stiff, painful joints --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of symptoms in childhood with stiff, painful joints | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3800. en:onset of symptoms in early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of symptoms in early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3801. en:onset of symptoms in fifth decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of symptoms in fifth decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3802. en:onset of symptoms in first decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of symptoms in first decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3803. en:onset of symptoms in first or second decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of symptoms in first or second decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3804. en:onset of symptoms in second decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of symptoms in second decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3805. en:onset of symptoms in second or third decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of symptoms in second or third decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3806. en:onset of symptoms in second or third decade (mean 25 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of symptoms in second or third decade (mean 25 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3807. en:onset of symptoms in the fourth to sixth decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of symptoms in the fourth to sixth decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3808. en:onset of symptoms in third to sixth decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of symptoms in third to sixth decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3809. en:onset of symptoms less than one year --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of symptoms less than one year | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3810. en:onset of symptoms often associated with nonspecific febrile illness --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of symptoms often associated with nonspecific febrile illness | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3811. en:onset of symptoms usually between 12-15 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of symptoms usually between 12-15 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3812. en:onset of symptoms usually in adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of symptoms usually in adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3813. en:onset of symptoms within the first 2 decades of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of symptoms within the first 2 decades of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3814. en:onset of thrombocytopenia in early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of thrombocytopenia in early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3815. en:onset of thrombosis by age 2 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of thrombosis by age 2 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3816. en:onset of tremor usually before onset of seizures --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of tremor usually before onset of seizures | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3817. en:onset of tumors usually in adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of tumors usually in adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3818. en:onset of visual loss in childhood (around age 5 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of visual loss in childhood (around age 5 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3819. en:onset of visual loss in the first decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset of visual loss in the first decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3820. en:onset often begins in childhood or adolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset often begins in childhood or adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3821. en:onset often in late adolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset often in late adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3822. en:onset precipitated by fasting or illness --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset precipitated by fasting or illness | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3823. en:onset prenatally or at birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset prenatally or at birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3824. en:onset ranges from 2 days to 7 months (most at 2-3 months) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset ranges from 2 days to 7 months (most at 2-3 months) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3825. en:onset ranges from birth to age 4 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset ranges from birth to age 4 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3826. en:onset ranges from childhood (severe phenotype) to adulthood (limited phenotype) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset ranges from childhood (severe phenotype) to adulthood (limited phenotype) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3827. en:onset ranges from childhood to adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset ranges from childhood to adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3828. en:onset ranges from childhood to young adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset ranges from childhood to young adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3829. en:onset ranges from early childhood to adulthood (usually before age 15) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset ranges from early childhood to adulthood (usually before age 15) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3830. en:onset ranges from first to third decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset ranges from first to third decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3831. en:onset ranges from young adulthood to sixties --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset ranges from young adulthood to sixties | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3832. en:onset second decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset second decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3833. en:onset soon after birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset soon after birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3834. en:onset soon after birth or within the first year of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset soon after birth or within the first year of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3835. en:onset usually after age 40 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually after age 40 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3836. en:onset usually after viral-like infection --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually after viral-like infection | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3837. en:onset usually associated with febrile illness --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually associated with febrile illness | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3838. en:onset usually at 2 to 6 months of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually at 2 to 6 months of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3839. en:onset usually at birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually at birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3840. en:onset usually at birth, but may occur later --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually at birth, but may occur later | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3841. en:onset usually before age 10 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually before age 10 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3842. en:onset usually before age 40 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually before age 40 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3843. en:onset usually before age 40 years (range 15 to 55) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually before age 40 years (range 15 to 55) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3844. en:onset usually between 30 and 50 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually between 30 and 50 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3845. en:onset usually by age 2 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually by age 2 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3846. en:onset usually in adolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3847. en:onset usually in adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3848. en:onset usually in adulthood although childhood onset has been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in adulthood although childhood onset has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3849. en:onset usually in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3850. en:onset usually in childhood (1 to 9 years of age) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in childhood (1 to 9 years of age) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3851. en:onset usually in childhood (infancy to teens) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in childhood (infancy to teens) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3852. en:onset usually in childhood (range 17 months to 39 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in childhood (range 17 months to 39 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3853. en:onset usually in childhood (range 6 months to 16 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in childhood (range 6 months to 16 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3854. en:onset usually in childhood (range infancy to late childhood) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in childhood (range infancy to late childhood) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3855. en:onset usually in early adolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in early adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3856. en:onset usually in early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3857. en:onset usually in early childhood (but can range from infancy to adolescence) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in early childhood (but can range from infancy to adolescence) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3858. en:onset usually in early childhood, although ranges from birth to adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in early childhood, although ranges from birth to adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3859. en:onset usually in first decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in first decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3860. en:onset usually in first month of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in first month of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3861. en:onset usually in first or second decade (mean 10 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in first or second decade (mean 10 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3862. en:onset usually in first or second decades --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in first or second decades | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3863. en:onset usually in first to third decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in first to third decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3864. en:onset usually in first year of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in first year of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3865. en:onset usually in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3866. en:onset usually in infancy although later onset may occur --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in infancy although later onset may occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3867. en:onset usually in infancy or childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in infancy or childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3868. en:onset usually in infancy or early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in infancy or early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3869. en:onset usually in infancy or early childhood (9 months to 6 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in infancy or early childhood (9 months to 6 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3870. 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:incidence of 1 in 250,000 births
    n1=en:onset usually in infancy or up to 2 years of age although later onset has been reported ('late-infantile') | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3871. en:onset usually in late adolescence or early adulthood (range 15 to 45 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in late adolescence or early adulthood (range 15 to 45 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3872. en:onset usually in late infancy or childhood (1 to 6 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in late infancy or childhood (1 to 6 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3873. en:onset usually in mid-teens, average 15 years (range 2 to 20 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in mid-teens, average 15 years (range 2 to 20 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3874. en:onset usually in second decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in second decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3875. en:onset usually in second decade (may occur earlier) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in second decade (may occur earlier) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3876. en:onset usually in second decade of life, although earlier and later onset have been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in second decade of life, although earlier and later onset have been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3877. en:onset usually in second or third decades --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in second or third decades | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3878. en:onset usually in the first 4 years of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in the first 4 years of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3879. en:onset usually in the first decade (range 0.8 to 5 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in the first decade (range 0.8 to 5 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3880. en:onset usually in the neck --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in the neck | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3881. en:onset usually in the neonatal period although later onset has been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in the neonatal period although later onset has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3882. en:onset usually in the third decade (range 11 to 50 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in the third decade (range 11 to 50 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3883. en:onset usually in third decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in third decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3884. en:onset usually in third or fourth decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in third or fourth decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3885. en:onset usually in young adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually in young adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3886. en:onset usually within first weeks of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset usually within first weeks of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3887. en:onset within first 2 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset within first 2 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3888. en:onset within first 2 years of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset within first 2 years of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3889. en:onset within first 3 months of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset within first 3 months of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3890. en:onset within first 6 months of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset within first 6 months of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3891. en:onset within first year of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset within first year of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3892. en:onset within the first decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:onset within the first decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3893. en:ophthalmologic signs onset in first to sixth decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:ophthalmologic signs onset in first to sixth decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3894. en:oral contraceptives may also cause symptoms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:oral contraceptives may also cause symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3895. en:oral supplementation with ubiquinone does not result in major clinical improvement --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:oral supplementation with ubiquinone does not result in major clinical improvement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3896. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3897. en:ossification evident 2-8 months following swelling --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:ossification evident 2-8 months following swelling | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3898. en:other features of neurofibromatosis type i (nf1, 162200) may or may not be present --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:other features of neurofibromatosis type i (nf1, 162200) may or may not be present | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3899. en:other half show head circumference more retarded than height --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:other half show head circumference more retarded than height | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3900. en:other muscle become involved about 5 years after onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:other muscle become involved about 5 years after onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3901. en:other tumors may also occur --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:other tumors may also occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3902. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3903. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3904. en:other visual functions, including visual acuity, visual field, and color vision, are usually normal in these patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:other visual functions, including visual acuity, visual field, and color vision, are usually normal in these patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3905. en:otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3906. en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3907. en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder with a more severe, frequently lethal phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder with a more severe, frequently lethal phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3908. en:overall course less severe compared to patients with cfh (134370) mutations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:overall course less severe compared to patients with cfh (134370) mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3909. en:overall prevalence is between 0.5 and 14 per 100,000 people per year --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:overall prevalence is between 0.5 and 14 per 100,000 people per year | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3910. en:overlap with obsessive-compulsive disorder (ocd, 164230) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:overlap with obsessive-compulsive disorder (ocd, 164230) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3911. en:overlap with tourette syndrome (137580) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:overlap with tourette syndrome (137580) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3912. en:overlapping clinical spectrum and allelic to masa syndrome (303350) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:overlapping clinical spectrum and allelic to masa syndrome (303350) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3913. en:overlapping features of digeorge syndrome --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:overlapping features of digeorge syndrome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3914. en:overlapping features with barber-say syndrome (209885) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:overlapping features with barber-say syndrome (209885) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3915. en:overlapping pathologic features with x-linked myopathy with excessive autophagy (xmea, 310440) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:overlapping pathologic features with x-linked myopathy with excessive autophagy (xmea, 310440) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3916. en:pain is noted to feel cold --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:pain is noted to feel cold | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3917. en:pain is relieved by antiinflammatory medication --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:pain is relieved by antiinflammatory medication | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3918. en:pain most commonly affects the trunk, extremities, pelvic region, buttocks --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:pain most commonly affects the trunk, extremities, pelvic region, buttocks | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3919. en:pain tends to occur later in the day --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:pain tends to occur later in the day | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3920. en:painful cramping following ischemic exercise test --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:painful cramping following ischemic exercise test | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3921. en:parental somatic mosaicism in 2 cases produced mild phenotype in the patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:parental somatic mosaicism in 2 cases produced mild phenotype in the patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3922. en:parietal foramina-2 (pfm2, 609597) are caused by mutations in the alx4 gene (605420) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:parietal foramina-2 (pfm2, 609597) are caused by mutations in the alx4 gene (605420) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3923. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3924. en:part of 'dent disease complex' --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:part of 'dent disease complex' | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3925. en:part of 'dent disease complex' (see 300009) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:part of 'dent disease complex' (see 300009) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3926. en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3927. en:partial factor viii deficiency in heterozygous carriers --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:partial factor viii deficiency in heterozygous carriers | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3928. en:partial laminin alpha-2 deficiency results in milder phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:partial laminin alpha-2 deficiency results in milder phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3929. en:partially responsive to laser treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:partially responsive to laser treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3930. en:paternal age effect --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:paternal age effect | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3931. en:paternal anticipation bias --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:paternal anticipation bias | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3932. en:pathogenic alleles contain 52 to 86 repeats --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:pathogenic alleles contain 52 to 86 repeats | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3933. en:pathogenic alleles contain 71 to 1,300 repeats --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:pathogenic alleles contain 71 to 1,300 repeats | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3934. en:pathogenic alleles contain 75-11,000 repeats --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:pathogenic alleles contain 75-11,000 repeats | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3935. en:pathogenic alleles contain greater than 41 repeats --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:pathogenic alleles contain greater than 41 repeats | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3936. en:pathogenic alleles have 19 to 33 repeats --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:pathogenic alleles have 19 to 33 repeats | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3937. en:pathogenic cag repeat length is 51 to 78 triplets --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:pathogenic cag repeat length is 51 to 78 triplets | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3938. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3939. en:patient with truncating mutations are more likely to develop neurologic abnormalities --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patient with truncating mutations are more likely to develop neurologic abnormalities | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3940. en:patients achieve ambulation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients achieve ambulation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3941. en:patients are born with normal head circumference --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients are born with normal head circumference | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3942. en:patients are often asymptomatic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients are often asymptomatic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3943. en:patients are often of mediterranean origin --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients are often of mediterranean origin | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3944. en:patients are prone to impaired thermoregulation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients are prone to impaired thermoregulation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3945. en:patients are severely disabled as adults --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients are severely disabled as adults | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3946. en:patients are susceptible to sepsis and dehydration --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients are susceptible to sepsis and dehydration | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3947. 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:incidence of 1 in 250,000 births
    n1=en:patients are typically blind by second or third decade of life, but pace of visual deterioration is highly variable | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3948. en:patients become wheelchair-bound about 10 years after onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients become wheelchair-bound about 10 years after onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3949. en:patients become wheelchair-bound as adults --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients become wheelchair-bound as adults | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3950. en:patients become wheelchair-bound in second decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients become wheelchair-bound in second decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3951. en:patients between 30 and 60 years have discomfort with prolonged standing --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients between 30 and 60 years have discomfort with prolonged standing | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3952. en:patients can be divided into 2 groups based on whether typical hand anomalies are present --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients can be divided into 2 groups based on whether typical hand anomalies are present | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3953. en:patients can have als, ftd, or both --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients can have als, ftd, or both | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3954. en:patients can have multiple seizure types --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients can have multiple seizure types | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3955. en:patients develop aortic dissection with little or no aortic enlargement --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients develop aortic dissection with little or no aortic enlargement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3956. en:patients develop multiple tumors --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients develop multiple tumors | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3957. en:patients do not exhibit ophthalmoplegia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients do not exhibit ophthalmoplegia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3958. en:patients do not have clinical hypothyroidism --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients do not have clinical hypothyroidism | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3959. en:patients do not have ectopia lentis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients do not have ectopia lentis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3960. en:patients exhibit no signs of ocular or cutaneous albinism --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients exhibit no signs of ocular or cutaneous albinism | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3961. en:patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3962. en:patients from 4 unrelated families have been reported (as of october 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients from 4 unrelated families have been reported (as of october 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3963. en:patients from old order amish community and turkey have been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients from old order amish community and turkey have been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3964. en:patients gradually develop tolerance to carbohydrates over time --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients gradually develop tolerance to carbohydrates over time | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3965. en:patients have a distinctive shallow u-shaped audiogram --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients have a distinctive shallow u-shaped audiogram | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3966. 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:incidence of 1 in 250,000 births
    n1=en:patients have increased numbers and earlier onset of neurofibromas compared to patients with neurofibromatosis-1 due to point mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3967. en:patients have no abnormalities of hair, teeth, or bone --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients have no abnormalities of hair, teeth, or bone | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3968. en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3969. en:patients have normal levels of vitamin a, beta-carotene, and zinc --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients have normal levels of vitamin a, beta-carotene, and zinc | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3970. en:patients have normal pituitary function --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients have normal pituitary function | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3971. en:patients have severe anemia requiring regular transfusions for normal activity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients have severe anemia requiring regular transfusions for normal activity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3972. en:patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3973. en:patients look as if they have protein deficiency or malnutrition --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients look as if they have protein deficiency or malnutrition | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3974. en:patients may be asymptomatic, but are at risk for metabolic decompensation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients may be asymptomatic, but are at risk for metabolic decompensation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3975. en:patients may become totally dependent for all activities of daily living --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients may become totally dependent for all activities of daily living | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3976. en:patients may become ventilator-dependent --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients may become ventilator-dependent | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3977. en:patients may become wheelchair-bound --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients may become wheelchair-bound | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3978. en:patients may become wheelchair-bound after about 12 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients may become wheelchair-bound after about 12 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3979. en:patients may become wheelchair-bound as adults --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients may become wheelchair-bound as adults | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3980. en:patients may have a combination phenotype of pmc and hypp (see 603967.0005) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients may have a combination phenotype of pmc and hypp (see 603967.0005) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3981. en:patients may have benign course until late adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients may have benign course until late adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3982. en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3983. en:patients may have recurrent infections due to immunosuppressive therapy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients may have recurrent infections due to immunosuppressive therapy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3984. en:patients may have seizures only, dyskinesia only, or both --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients may have seizures only, dyskinesia only, or both | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3985. en:patients may or may not have dysmorphic features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients may or may not have dysmorphic features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3986. en:patients may present with autoimmune features or primary immunodeficiency --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients may present with autoimmune features or primary immunodeficiency | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3987. en:patients may present with either renal or neurologic symptoms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients may present with either renal or neurologic symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3988. en:patients may present with recurrent illnesses or infections, or shock --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients may present with recurrent illnesses or infections, or shock | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3989. en:patients may require implantable cardioverter defibrillators --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients may require implantable cardioverter defibrillators | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3990. en:patients may show both optic neuropathy and dystonia or only 1 disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients may show both optic neuropathy and dystonia or only 1 disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3991. en:patients may show normal development --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients may show normal development | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3992. en:patients need lifelong total parenteral nutrition --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients need lifelong total parenteral nutrition | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3993. en:patients need support with walking or are wheelchair-bound --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients need support with walking or are wheelchair-bound | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3994. en:patients of brazilian origin have a pure cerebellar atrophy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients of brazilian origin have a pure cerebellar atrophy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3995. en:patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3996. en:patients often become wheelchair-bound --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients often become wheelchair-bound | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3997. en:patients often become wheelchair-bound 3 to 4 decades after onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients often become wheelchair-bound 3 to 4 decades after onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3998. en:patients often have a more severe and complicated phenotype in addition to peo --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients often have a more severe and complicated phenotype in addition to peo | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  3999. en:patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4000. en:patients often nonambulatory by the mid-twenties --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients often nonambulatory by the mid-twenties | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4001. en:patients often require implantation of a pacemaker --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients often require implantation of a pacemaker | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4002. en:patients older than 60 years have severe degenerative arthritis in the feet --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients older than 60 years have severe degenerative arthritis in the feet | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4003. en:patients present at birth with respiratory distress or poor head control --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients present at birth with respiratory distress or poor head control | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4004. en:patients remain ambulatory --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients remain ambulatory | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4005. en:patients require achilles tendon lengthening in first or second decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients require achilles tendon lengthening in first or second decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4006. en:patients retain ambulation even after long disease course --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients retain ambulation even after long disease course | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4007. en:patients show sorbitol and glycerol intolerance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients show sorbitol and glycerol intolerance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4008. en:patients usually require total thyroidectomy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients usually require total thyroidectomy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4009. en:patients walk on tips of toes with dorsal foot deviated laterally --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients walk on tips of toes with dorsal foot deviated laterally | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4010. en:patients who acquire ability to walk may lose it --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients who acquire ability to walk may lose it | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4011. en:patients with a more severe phenotype have been reported with mutations in more than 1 lqts-related gene --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients with a more severe phenotype have been reported with mutations in more than 1 lqts-related gene | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4012. en:patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4013. en:patients with adult onset present with psychiatric features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients with adult onset present with psychiatric features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4014. en:patients with atypical form have milder disease, with onset in the first months of life and increased survival --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients with atypical form have milder disease, with onset in the first months of life and increased survival | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4015. en:patients with autosomal dominant inheritance and a single gdap1 mutation have a less severe course with later onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients with autosomal dominant inheritance and a single gdap1 mutation have a less severe course with later onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4016. en:patients with contiguous gene deletion of 8q24 have more severe features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients with contiguous gene deletion of 8q24 have more severe features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4017. en:patients with glaucoma have nonsense or truncating sbf2 mutations (607697.0002) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients with glaucoma have nonsense or truncating sbf2 mutations (607697.0002) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4018. en:patients with hemophilia b(m) variants (see, e.g., 300746.0030) also have prolonged pt --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients with hemophilia b(m) variants (see, e.g., 300746.0030) also have prolonged pt | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4019. en:patients with homozygous mutations display mild palmoplantar keratoderma and woolly hair in addition to arvd --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients with homozygous mutations display mild palmoplantar keratoderma and woolly hair in addition to arvd | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4020. en:patients with homozygous mutations have a more severe disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients with homozygous mutations have a more severe disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4021. en:patients with homozygous or compound heterozygous mutations have more severe renal glucose wasting than those with heterozygous mutations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients with homozygous or compound heterozygous mutations have more severe renal glucose wasting than those with heterozygous mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4022. en:patients with later onset do not have dysmorphic features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients with later onset do not have dysmorphic features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4023. en:patients with later onset have better prognosis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients with later onset have better prognosis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4024. en:patients with longer disease duration show motor neuron involvement --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients with longer disease duration show motor neuron involvement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4025. en:patients with meb have less severe features and longer survival --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients with meb have less severe features and longer survival | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4026. en:patients with meb may acquire ability to walk and a few words --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients with meb may acquire ability to walk and a few words | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4027. en:patients with medication-resistant hypertension require bilateral adrenalectomy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients with medication-resistant hypertension require bilateral adrenalectomy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4028. en:patients with more severe phenotype have been reported with mutations in more than 1 lqt-related gene --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients with more severe phenotype have been reported with mutations in more than 1 lqt-related gene | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4029. en:patients with more severe phenotype have been reported with mutations in more than 1 lqts-related gene --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients with more severe phenotype have been reported with mutations in more than 1 lqts-related gene | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4030. en:patients with mutation in the nhlrc1 gene have slightly longer survival --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients with mutation in the nhlrc1 gene have slightly longer survival | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4031. en:patients with mutations in the chrne gene have a milder phenotype because fetal chrng (100730) exhibits phenotypic rescue --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients with mutations in the chrne gene have a milder phenotype because fetal chrng (100730) exhibits phenotypic rescue | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4032. en:patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, 609136) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, 609136) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4033. en:patients with null mutations have neonatal onset within 72 hours of birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients with null mutations have neonatal onset within 72 hours of birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4034. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4035. en:patients with residual enzyme activity have childhood or adult onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients with residual enzyme activity have childhood or adult onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4036. en:patients with t2 deficiency and urinary abnormalities may be asymptomatic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients with t2 deficiency and urinary abnormalities may be asymptomatic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4037. en:patients with the autosomal recessive disorder have a more severe phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients with the autosomal recessive disorder have a more severe phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4038. en:patients with total c4 deficiency are homozygous for double null c4 haplotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients with total c4 deficiency are homozygous for double null c4 haplotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4039. en:patients with variant cjd are homozygous for met129 polymorphism (176640.0005) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients with variant cjd are homozygous for met129 polymorphism (176640.0005) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4040. en:patients younger than 30 years complain only that they cannot run fast --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:patients younger than 30 years complain only that they cannot run fast | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4041. en:pavm more frequent in hht1 than hht2 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:pavm more frequent in hht1 than hht2 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4042. en:pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4043. en:pcd is a distinct disorder from premature chromatid separation (pcs, 176430), which occurs in all chromosomes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:pcd is a distinct disorder from premature chromatid separation (pcs, 176430), which occurs in all chromosomes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4044. en:pcs is a distinct disorder from premature centromere division (pcd, 212790), which affects only the x chromosome --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:pcs is a distinct disorder from premature centromere division (pcd, 212790), which affects only the x chromosome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4045. en:peak age of onset in second decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:peak age of onset in second decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4046. en:peak age of onset in second decade (range childhood to 50 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:peak age of onset in second decade (range childhood to 50 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4047. en:peak age of onset in second decade (range childhood to 76 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:peak age of onset in second decade (range childhood to 76 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4048. en:pectus carinatum present in obligate carrier mothers --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:pectus carinatum present in obligate carrier mothers | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4049. en:pedigrees compatible with autosomal dominant inheritance have been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:pedigrees compatible with autosomal dominant inheritance have been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4050. en:pedigrees consistent with autosomal dominant and autosomal recessive inheritance have been described --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:pedigrees consistent with autosomal dominant and autosomal recessive inheritance have been described | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4051. en:pelizaeus-merzbacher disease (pmd, 312080) is an allelic disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:pelizaeus-merzbacher disease (pmd, 312080) is an allelic disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4052. en:penetrance 86% by 50 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:penetrance 86% by 50 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4053. en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4054. en:penetrance is usually complete by age 65 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:penetrance is usually complete by age 65 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4055. en:penetrance of 70 to 80% over a lifetime in heterozygous mutation carriers --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:penetrance of 70 to 80% over a lifetime in heterozygous mutation carriers | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4056. en:penetrance of disease is complete between 30 and 40 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:penetrance of disease is complete between 30 and 40 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4057. en:peo is not always present --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:peo is not always present | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4058. en:percentages based on review of 51 published cases (pmid 24891339) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:percentages based on review of 51 published cases (pmid 24891339) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4059. en:performing laboratory medical director:id:pt:facility:nom --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:performing laboratory medical director:id:pt:facility:nom | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4060. en:performing laboratory name:identifier:point in time:facility:nominal --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:performing laboratory name:identifier:point in time:facility:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4061. en:performing laboratory phone:tele:pt:facility:nom --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:performing laboratory phone:tele:pt:facility:nom | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4062. en:performing laboratory:addr:pt:facility:nom --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:performing laboratory:addr:pt:facility:nom | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4063. en:perinatal lethal --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:perinatal lethal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4064. en:perinatal lethality --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:perinatal lethality | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4065. en:perinatal mortality --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:perinatal mortality | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4066. en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4067. en:periodontium is less severely affected than in papillon-lefevre syndrome --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:periodontium is less severely affected than in papillon-lefevre syndrome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4068. en:peripheral neuropathy occurs in adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:peripheral neuropathy occurs in adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4069. en:periventricular heterotopia (300049) is an allelic disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:periventricular heterotopia (300049) is an allelic disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4070. en:persistence of febrile seizures beyond age 6 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:persistence of febrile seizures beyond age 6 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4071. en:persistent bleeding after injury or surgery --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:persistent bleeding after injury or surgery | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4072. en:persistent bleeding after trauma --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:persistent bleeding after trauma | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4073. en:persistent exposure to fructose leads to chronic liver and kidney complications --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:persistent exposure to fructose leads to chronic liver and kidney complications | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4074. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4075. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4076. en:phenotype is classically defined as aplasia cutis and transverse limb defects --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotype is classically defined as aplasia cutis and transverse limb defects | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4077. en:phenotype is indistinguishable from congenital cytomegalovirus (cmv) infection --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotype is indistinguishable from congenital cytomegalovirus (cmv) infection | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4078. en:phenotype is worsened by cold temperature --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotype is worsened by cold temperature | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4079. en:phenotype may be exacerbated by maltreatment in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotype may be exacerbated by maltreatment in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4080. en:phenotype may be influenced by maternal alcohol consumption during pregnancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotype may be influenced by maternal alcohol consumption during pregnancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4081. en:phenotype may be oligogenic in some patients who carry mutations in more than one hh-associated gene --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotype may be oligogenic in some patients who carry mutations in more than one hh-associated gene | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4082. en:phenotype may or may not be consistent within a family. --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotype may or may not be consistent within a family. | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4083. en:phenotype range from typical parkinson disease (168600) to dementia with lewy bodies (127750) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotype range from typical parkinson disease (168600) to dementia with lewy bodies (127750) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4084. en:phenotypic heterogeneity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic heterogeneity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4085. en:phenotypic overlap between neurofibromatosis type 1 (162200) and noonan syndrome (163950) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic overlap between neurofibromatosis type 1 (162200) and noonan syndrome (163950) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4086. en:phenotypic overlap with albright hereditary osteodystrophy (aho, 103580) and smith-magenis syndrome (sms, 182290) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic overlap with albright hereditary osteodystrophy (aho, 103580) and smith-magenis syndrome (sms, 182290) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4087. en:phenotypic overlap with charcot-marie-tooth disease 2b (cmt2b, 600882) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic overlap with charcot-marie-tooth disease 2b (cmt2b, 600882) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4088. en:phenotypic overlap with currarino syndrome (176450) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic overlap with currarino syndrome (176450) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4089. en:phenotypic overlap with cytochrome c oxidase deficiency (220110) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic overlap with cytochrome c oxidase deficiency (220110) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4090. en:phenotypic overlap with denys-drash syndrome (194080). --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic overlap with denys-drash syndrome (194080). | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4091. en:phenotypic overlap with desbuquois dysplasia (251450) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic overlap with desbuquois dysplasia (251450) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4092. en:phenotypic overlap with fhm1 (141500) and sca6 (183086) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic overlap with fhm1 (141500) and sca6 (183086) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4093. en:phenotypic overlap with frontotemporal dementia (600274) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic overlap with frontotemporal dementia (600274) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4094. en:phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, 162400) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, 162400) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4095. en:phenotypic overlap with munke syndrome (602849) due to a mutation in the fgfr3 gene (p250r, 134934.0014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic overlap with munke syndrome (602849) due to a mutation in the fgfr3 gene (p250r, 134934.0014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4096. en:phenotypic overlap with neurofibromatosis 1 (nf1, 162200) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic overlap with neurofibromatosis 1 (nf1, 162200) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4097. en:phenotypic overlap with noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic overlap with noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4098. en:phenotypic overlap with parkinson disease --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic overlap with parkinson disease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4099. en:phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, 234200) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, 234200) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4100. en:phenotypic overlap with revesz syndrome (268130) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic overlap with revesz syndrome (268130) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4101. en:phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, 274150) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, 274150) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4102. en:phenotypic overlap with wagr syndrome (194072), frasier syndrome (136680) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic overlap with wagr syndrome (194072), frasier syndrome (136680) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4103. en:phenotypic overlap with xeroderma pigmentosum (see, e.g., 278700) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic overlap with xeroderma pigmentosum (see, e.g., 278700) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4104. en:phenotypic similarities to angelman syndrome (105830) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic similarities to angelman syndrome (105830) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4105. en:phenotypic similarities to costello syndrome (218040) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic similarities to costello syndrome (218040) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4106. en:phenotypic similarities to leigh syndrome (256000) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic similarities to leigh syndrome (256000) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4107. en:phenotypic similarities to noonan syndrome (163950) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic similarities to noonan syndrome (163950) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4108. en:phenotypic variability --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic variability | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4109. en:phenotypic variability within families and among patients carrying the same mutation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic variability within families and among patients carrying the same mutation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4110. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4111. en:phenotypic variability, intrafamilial --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic variability, intrafamilial | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4112. en:phenotypic variation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic variation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4113. en:phenotypic variation in severity and symptoms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypic variation in severity and symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4114. en:phenotypically indistinguishable from hemophilia a (306700) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypically indistinguishable from hemophilia a (306700) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4115. en:phenotypically mild form of joubert syndrome --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:phenotypically mild form of joubert syndrome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4116. en:physical features are apparent at birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:physical features are apparent at birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4117. en:physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4118. en:pigment does not develop with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:pigment does not develop with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4119. en:pigmentary abnormalities apparent at birth or in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:pigmentary abnormalities apparent at birth or in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4120. en:pigmented spots appear in infancy through childhood and fade in adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:pigmented spots appear in infancy through childhood and fade in adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4121. en:plantar contractures become apparent with onset of ambulation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:plantar contractures become apparent with onset of ambulation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4122. en:plasma cholinesterase measurement --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:plasma cholinesterase measurement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4123. en:pneumocytosis carinii infection (12 to 42%) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:pneumocytosis carinii infection (12 to 42%) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4124. en:poland syndrome can be associated with moebius syndrome (157900) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:poland syndrome can be associated with moebius syndrome (157900) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4125. en:polg mutations account for approximately 45% of all peo cases --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:polg mutations account for approximately 45% of all peo cases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4126. en:polyps occur in teens --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:polyps occur in teens | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4127. en:poor gonadotropin response to gonadotropin releasing hormone (gnrh) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:poor gonadotropin response to gonadotropin releasing hormone (gnrh) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4128. en:poor or no response to glucocorticoid treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:poor or no response to glucocorticoid treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4129. en:poor outcome --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:poor outcome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4130. en:poor response to acetylcholinesterase inhibitors --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:poor response to acetylcholinesterase inhibitors | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4131. en:poor response to acetylcholinesterase inhibitors or cholinergic agents --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:poor response to acetylcholinesterase inhibitors or cholinergic agents | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4132. en:poor response to g-csf treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:poor response to g-csf treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4133. en:poor response to levodopa treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:poor response to levodopa treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4134. en:poor response to the c5 inhibitor eculizumab --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:poor response to the c5 inhibitor eculizumab | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4135. en:positive family history in 12-33% patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:positive family history in 12-33% patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4136. en:possible autosomal dominant (165199) and autosomal recessive (258650) forms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:possible autosomal dominant (165199) and autosomal recessive (258650) forms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4137. en:possible autosomal dominant form 165199 and x-linked form, cmtx5 311070 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:possible autosomal dominant form 165199 and x-linked form, cmtx5 311070 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4138. en:possible autosomal recessive form 258650 and x-linked form cmtx5 311070 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:possible autosomal recessive form 258650 and x-linked form cmtx5 311070 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4139. en:possible defect of a specific lipase in the pathway of free fatty acid oxidation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:possible defect of a specific lipase in the pathway of free fatty acid oxidation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4140. en:possible genetic heterogeneity (linkage to xp22 in some families) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:possible genetic heterogeneity (linkage to xp22 in some families) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4141. en:possible gonadal mosaicism in one report --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:possible gonadal mosaicism in one report | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4142. en:possible increase of aneuploidy in offspring --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:possible increase of aneuploidy in offspring | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4143. en:possible x-linked inheritance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:possible x-linked inheritance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4144. en:possible x-linked recessive inheritance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:possible x-linked recessive inheritance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4145. en:possibly allelic to cohen syndrome (216550) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:possibly allelic to cohen syndrome (216550) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4146. en:possibly x-linked recessive inheritance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:possibly x-linked recessive inheritance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4147. en:postlingual onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:postlingual onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4148. en:precipitated by febrile illness and fasting --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:precipitated by febrile illness and fasting | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4149. en:precipitated by infection, fasting, or intercurrent illness --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:precipitated by infection, fasting, or intercurrent illness | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4150. en:precipitated by mechanical compression or pressure on nerve --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:precipitated by mechanical compression or pressure on nerve | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4151. en:precipitated by sleep deprivation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:precipitated by sleep deprivation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4152. en:precipitating factors - ingestion of wheat gluten, rye, and/or barley --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:precipitating factors - ingestion of wheat gluten, rye, and/or barley | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4153. en:precipitating factors include viral illness and pregnancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:precipitating factors include viral illness and pregnancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4154. en:predisposition to neoplasia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:predisposition to neoplasia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4155. en:predominantly occurs in young males with a high rate of atopic disease --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:predominantly occurs in young males with a high rate of atopic disease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4156. en:predominantly occurs in young males with high rate of atopic disease --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:predominantly occurs in young males with high rate of atopic disease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4157. en:preferably treated with iodine supplementation rather than thyroid hormone replacement --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:preferably treated with iodine supplementation rather than thyroid hormone replacement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4158. en:prelingual onset in males --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prelingual onset in males | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4159. en:premature death may occur --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:premature death may occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4160. en:prenatal diagnosis available --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prenatal diagnosis available | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4161. en:prenatal diagnosis by ultrasound --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prenatal diagnosis by ultrasound | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4162. en:prenatal history of maternal diabetes in 35% of cases --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prenatal history of maternal diabetes in 35% of cases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4163. en:prenatal onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prenatal onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4164. en:prenatal onset or onset in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prenatal onset or onset in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4165. en:prenatal or neonatal onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prenatal or neonatal onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4166. en:prenatal or perinatal death --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prenatal or perinatal death | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4167. en:prenatal or perinatal lethality in hemizygous males --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prenatal or perinatal lethality in hemizygous males | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4168. en:preponderance of affected females (80%) to males --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:preponderance of affected females (80%) to males | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4169. en:presence of 4 major features or 3 major and 2 minor features establishes the diagnosis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:presence of 4 major features or 3 major and 2 minor features establishes the diagnosis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4170. en:present at birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:present at birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4171. en:present in infancy in all affected individuals --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:present in infancy in all affected individuals | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4172. en:present in jewish yemenite population --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:present in jewish yemenite population | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4173. en:presentation after 18 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:presentation after 18 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4174. en:presentation after 6 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:presentation after 6 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4175. en:presentation at 3-6 weeks of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:presentation at 3-6 weeks of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4176. en:presentation between 6-18 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:presentation between 6-18 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4177. 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:incidence of 1 in 250,000 births
    n1=en:presentation in adults - episodic or nocturnal diarrhea, flatulence, weight loss, iron deficiency anemia, macrocytic anemia, coagulopathy, vitamin d deficiency | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4178. en:presentation in childhood includes waddling gait and knee pain/stiffness --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:presentation in childhood includes waddling gait and knee pain/stiffness | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4179. en:presentation in early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:presentation in early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4180. en:presentation in first year of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:presentation in first year of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4181. en:presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4182. en:presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4183. en:presenting symptoms in the upper body --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:presenting symptoms in the upper body | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4184. en:presents as early-onset strokes in 43% of patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:presents as early-onset strokes in 43% of patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4185. en:presents at 2 to 3 months of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:presents at 2 to 3 months of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4186. en:presents at a later age than sporadic wilms tumor --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:presents at a later age than sporadic wilms tumor | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4187. en:presents at a later stage than sporadic wilms tumor --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:presents at a later stage than sporadic wilms tumor | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4188. en:presents at birth or early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:presents at birth or early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4189. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4190. en:presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4191. en:presumed autosomal dominant with incomplete penetrance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:presumed autosomal dominant with incomplete penetrance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4192. en:prevalence 1 in 1,250 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence 1 in 1,250 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4193. en:prevalence 1 in 8000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence 1 in 8000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4194. en:prevalence 1-2% in northern european populations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence 1-2% in northern european populations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4195. en:prevalence 1/10,000-1/15,000 female births --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence 1/10,000-1/15,000 female births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4196. en:prevalence approximately 1 in 4,000 males --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence approximately 1 in 4,000 males | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4197. en:prevalence estimated at 1 in 86,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence estimated at 1 in 86,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4198. en:prevalence in caucasians is 1 in 1,000,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence in caucasians is 1 in 1,000,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4199. en:prevalence in finland is 1 in 25,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence in finland is 1 in 25,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4200. en:prevalence in norway is 1 in 80,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence in norway is 1 in 80,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4201. en:prevalence in poland is 1 in 129,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence in poland is 1 in 129,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4202. en:prevalence in sardinia is 1 in 14,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence in sardinia is 1 in 14,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4203. en:prevalence in slovenia is 1 in 43,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence in slovenia is 1 in 43,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4204. en:prevalence in taiwan is 1 in 132,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence in taiwan is 1 in 132,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4205. en:prevalence in the finnish population of 5.8 per million --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence in the finnish population of 5.8 per million | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4206. en:prevalence is estimated to be 1 in 1,100,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence is estimated to be 1 in 1,100,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4207. en:prevalence is estimated to be 1 in 150,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence is estimated to be 1 in 150,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4208. en:prevalence much higher in whites than blacks --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence much higher in whites than blacks | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4209. en:prevalence of 0.5 to 1 in 1,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 0.5 to 1 in 1,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4210. en:prevalence of 0.6 to 10 per 100,000 individuals --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 0.6 to 10 per 100,000 individuals | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4211. en:prevalence of 1 in 1,429 in tanzania --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 1 in 1,429 in tanzania | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4212. en:prevalence of 1 in 1,500 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 1 in 1,500 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4213. en:prevalence of 1 in 10,000 african-americans --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 1 in 10,000 african-americans | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4214. en:prevalence of 1 in 10,000 caucasians --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 1 in 10,000 caucasians | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4215. en:prevalence of 1 in 100,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 1 in 100,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4216. en:prevalence of 1 in 150 to 1 in 1,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 1 in 150 to 1 in 1,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4217. en:prevalence of 1 in 150,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 1 in 150,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4218. en:prevalence of 1 in 2,833 in zimbabwe --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 1 in 2,833 in zimbabwe | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4219. en:prevalence of 1 in 200,000 to 1 in 800,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 1 in 200,000 to 1 in 800,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4220. en:prevalence of 1 in 227 hopi indians --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 1 in 227 hopi indians | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4221. en:prevalence of 1 in 240 zuni indians --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 1 in 240 zuni indians | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4222. en:prevalence of 1 in 28,000 african-americans --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 1 in 28,000 african-americans | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4223. en:prevalence of 1 in 28,000 caucasians --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 1 in 28,000 caucasians | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4224. en:prevalence of 1 in 3,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 1 in 3,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4225. en:prevalence of 1 in 3,900 in south africa --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 1 in 3,900 in south africa | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4226. en:prevalence of 1 in 30,000 in northern europe --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 1 in 30,000 in northern europe | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4227. en:prevalence of 1 in 300,000 in quebec --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 1 in 300,000 in quebec | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4228. en:prevalence of 1 in 40,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 1 in 40,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4229. en:prevalence of 1 in 40,000 among caucasians --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 1 in 40,000 among caucasians | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4230. en:prevalence of 1 in 40,000 to 1 in 80,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 1 in 40,000 to 1 in 80,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4231. en:prevalence of 1 in 50,000-70,000 live births --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 1 in 50,000-70,000 live births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4232. en:prevalence of 1 in 6,000 to 1 in 10,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 1 in 6,000 to 1 in 10,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4233. en:prevalence of 1 in 7,900 in cameroon --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 1 in 7,900 in cameroon | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4234. en:prevalence of 1 in 70,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 1 in 70,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4235. en:prevalence of 19 in 1,000,000 in sweden --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 19 in 1,000,000 in sweden | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4236. en:prevalence of 2-7% in english-speaking preschool children --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 2-7% in english-speaking preschool children | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4237. en:prevalence of 7 in 100,000 live births --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of 7 in 100,000 live births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4238. en:prevalence of approximately 1 in 2000 individuals --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of approximately 1 in 2000 individuals | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4239. en:prevalence of essential tremor ranges from 0.4 to 6% in the general population --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of essential tremor ranges from 0.4 to 6% in the general population | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4240. en:prevalence of homozygous c4a deficiency in sle 10-15x higher than general population --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of homozygous c4a deficiency in sle 10-15x higher than general population | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4241. en:prevalence of in 1 in 8,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of in 1 in 8,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4242. en:prevalence of sleep terrors about 3% in children --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of sleep terrors about 3% in children | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4243. en:prevalence of sleep terrors less than 1% in adults --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of sleep terrors less than 1% in adults | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4244. en:prevalence of sleepwalking about 3% in adults --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of sleepwalking about 3% in adults | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4245. en:prevalence of sleepwalking up to 26% in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence of sleepwalking up to 26% in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4246. en:prevalence ranges from 1 in 12,000 to 1 in 50,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence ranges from 1 in 12,000 to 1 in 50,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4247. en:prevalence rates average 10-20% of the general population over age 60 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalence rates average 10-20% of the general population over age 60 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4248. en:prevalent among european, particularly spanish, gypsies (r1109x, 608206.0006) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalent among european, particularly spanish, gypsies (r1109x, 608206.0006) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4249. en:prevalent among individuals of east asian descent --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalent among individuals of east asian descent | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4250. en:prevalent among patients of asian descent, particularly japanese --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalent among patients of asian descent, particularly japanese | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4251. en:prevalent in arabic, turkish, armenian, and sephardic jewish populations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalent in arabic, turkish, armenian, and sephardic jewish populations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4252. en:prevalent in ashkenazi jews --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalent in ashkenazi jews | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4253. en:prevalent in bulgarian gypsies --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalent in bulgarian gypsies | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4254. en:prevalent in newfoundland --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalent in newfoundland | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4255. en:prevalent in north africa --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalent in north africa | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4256. en:prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4257. en:prevalent in quebec --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalent in quebec | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4258. en:prevalent in sweden --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalent in sweden | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4259. en:prevalent in the old order amish in the u.s. and in finland --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prevalent in the old order amish in the u.s. and in finland | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4260. en:primarily diagnosed in females --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:primarily diagnosed in females | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4261. en:primary teeth affected greater than secondary teeth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:primary teeth affected greater than secondary teeth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4262. en:probably autosomal dominant with rare instances of affected sibs due to germinal mosaicism --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:probably autosomal dominant with rare instances of affected sibs due to germinal mosaicism | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4263. en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4264. en:profound dementia and death usually occurs by age 50 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:profound dementia and death usually occurs by age 50 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4265. en:prognosis good --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prognosis good | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4266. en:progresses through puberty, then stabilizes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:progresses through puberty, then stabilizes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4267. en:progresses to involve upper limbs --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:progresses to involve upper limbs | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4268. en:progression in adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:progression in adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4269. en:progression more frequent in men than women --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:progression more frequent in men than women | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4270. 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:incidence of 1 in 250,000 births
    n1=en:progression of disease stops at a best-corrected visual acuity of 0.2 (20/100) to 0.1 (20/200) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4271. en:progression of phenotype with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:progression of phenotype with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4272. en:progression of the disorder is precipitated by viral symptoms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:progression of the disorder is precipitated by viral symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4273. en:progression to profound hearing loss affecting all frequencies --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:progression to profound hearing loss affecting all frequencies | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4274. en:progressive cerebellar ataxia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:progressive cerebellar ataxia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4275. en:progressive deafness --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:progressive deafness | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4276. en:progressive degenerative hip disease requiring replacement in 2nd to 4th decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:progressive degenerative hip disease requiring replacement in 2nd to 4th decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4277. en:progressive disease --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:progressive disease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4278. en:progressive disease is seen in some patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:progressive disease is seen in some patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4279. en:progressive disease with onset in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:progressive disease with onset in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4280. en:progressive disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:progressive disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4281. en:progressive disorder due to secondary myopathy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:progressive disorder due to secondary myopathy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4282. en:progressive disorder regarding both neurologic and renal symptoms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:progressive disorder regarding both neurologic and renal symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4283. en:progressive disorder, usually with rapid, relentless course --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:progressive disorder, usually with rapid, relentless course | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4284. en:progressive disorder, with older patients exhibiting more severe symptoms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:progressive disorder, with older patients exhibiting more severe symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4285. en:progressive neurologic deterioration if untreated --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:progressive neurologic deterioration if untreated | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4286. en:progressive or slowly progressive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:progressive or slowly progressive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4287. en:progressive renal disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:progressive renal disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4288. en:progressive sclerosis with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:progressive sclerosis with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4289. en:progressive, with full manifestations at puberty --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:progressive, with full manifestations at puberty | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4290. en:prominent psychiatric symptoms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:prominent psychiatric symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4291. en:protein c deficiency is found in 3-4% of patients with venous thromboembolism --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:protein c deficiency is found in 3-4% of patients with venous thromboembolism | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4292. en:protein s deficiency is found in 2-3% of patients with thromboembolism --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:protein s deficiency is found in 2-3% of patients with thromboembolism | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4293. en:protracted disease course --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:protracted disease course | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4294. en:provoked by crying or emotional upset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:provoked by crying or emotional upset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4295. en:pseudoarylsulfatase a deficiency is an allelic disorder with reduced levels of arsa activity, but no neurologic manifestations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:pseudoarylsulfatase a deficiency is an allelic disorder with reduced levels of arsa activity, but no neurologic manifestations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4296. en:pseudomembrane formation triggered by injury, infection, irritation, surgery --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:pseudomembrane formation triggered by injury, infection, irritation, surgery | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4297. en:psychiatric symptoms may be the presenting sign --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:psychiatric symptoms may be the presenting sign | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4298. en:psychomotor delay may already be apparent at onset of seizures --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:psychomotor delay may already be apparent at onset of seizures | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4299. en:ptosis is usually presenting feature --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:ptosis is usually presenting feature | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4300. en:pulsatile headache lasts hours to days --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:pulsatile headache lasts hours to days | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4301. en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4302. en:pyridoxine responsive individuals often have milder manifestations than those not responsive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:pyridoxine responsive individuals often have milder manifestations than those not responsive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4303. en:quinidine therapy is effective --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:quinidine therapy is effective | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4304. en:radioresistant dna synthesis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:radioresistant dna synthesis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4305. en:range of onset 11 to 50 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:range of onset 11 to 50 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4306. en:rapid disease progression --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:rapid disease progression | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4307. en:rapid disease progression from ages 40 to 50 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:rapid disease progression from ages 40 to 50 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4308. en:rapid progression in adolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:rapid progression in adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4309. en:rapid progression to disability --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:rapid progression to disability | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4310. en:rapidly progressive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:rapidly progressive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4311. en:rapidly progressive (6-24 months) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:rapidly progressive (6-24 months) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4312. en:rapidly progressive course --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:rapidly progressive course | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4313. en:rapidly progressive deterioration (in some patients) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:rapidly progressive deterioration (in some patients) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4314. en:rapidly progressive disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:rapidly progressive disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4315. en:rapidly progressive episodes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:rapidly progressive episodes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4316. en:rapidly progressive neonatal onset with early death --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:rapidly progressive neonatal onset with early death | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4317. en:rapidly progressive to persistent vegetative state or death --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:rapidly progressive to persistent vegetative state or death | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4318. en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4319. en:rare adult cases reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:rare adult cases reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4320. en:rare adult onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:rare adult onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4321. en:rare disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:rare disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4322. en:rare patients with homozygous null mutations have most severe disease --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:rare patients with homozygous null mutations have most severe disease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4323. en:rare spontaneous improvement occurs (8%) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:rare spontaneous improvement occurs (8%) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4324. en:rare survival to teens --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:rare survival to teens | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4325. en:rarely produces clinical jaundice --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:rarely produces clinical jaundice | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4326. en:rarely reported in infants --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:rarely reported in infants | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4327. en:rarely, patients may be asymptomatic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:rarely, patients may be asymptomatic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4328. en:rarely, patients with childhood-onset may lose the renal phosphate-wasting defect --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:rarely, patients with childhood-onset may lose the renal phosphate-wasting defect | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4329. en:rash, edema, and arthralgia may occur during crisis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:rash, edema, and arthralgia may occur during crisis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4330. en:ratio female to male, 19:10 in index family --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:ratio female to male, 19:10 in index family | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4331. en:reason for lab test:type:pt:bld.dot:nom --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reason for lab test:type:pt:bld.dot:nom | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4332. en:recessive inheritance has been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:recessive inheritance has been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4333. en:recurrence is possible --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:recurrence is possible | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4334. en:recurrence of symptoms after cholecystectomy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:recurrence of symptoms after cholecystectomy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4335. en:recurrent acute episodes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:recurrent acute episodes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4336. en:recurrent acute episodes of neurologic deterioration associated with febrile illnesses --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:recurrent acute episodes of neurologic deterioration associated with febrile illnesses | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4337. en:recurrent bacterial infections beginning in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:recurrent bacterial infections beginning in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4338. en:recurrent bacterial infections with onset in the first or second year of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:recurrent bacterial infections with onset in the first or second year of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4339. en:recurrent bacterial, viral, and fungal infections --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:recurrent bacterial, viral, and fungal infections | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4340. en:recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4341. en:recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4342. en:recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4343. en:reduced exercise tolerance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reduced exercise tolerance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4344. en:reduced fertility --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reduced fertility | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4345. en:reduced fetal movement --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reduced fetal movement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4346. en:reduced life expectancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reduced life expectancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4347. en:reduced life expectancy, death by 10 years of age in 70% of patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reduced life expectancy, death by 10 years of age in 70% of patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4348. en:reduced penetrance (75%) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reduced penetrance (75%) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4349. en:reduced penetrance (89%) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reduced penetrance (89%) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4350. en:reduced penetrance (about 60%) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reduced penetrance (about 60%) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4351. en:reduced penetrance (approximately 54%) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reduced penetrance (approximately 54%) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4352. en:reduced penetrance (approximately 87%) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reduced penetrance (approximately 87%) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4353. en:reduced penetrance in females --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reduced penetrance in females | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4354. en:reduced penetrance, estimated to be 15% at 60 years, 21% at 70 years, and 32% at 80 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reduced penetrance, estimated to be 15% at 60 years, 21% at 70 years, and 32% at 80 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4355. en:reduced zinc in affected mother's breast milk is unresponsive to oral zinc supplementation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reduced zinc in affected mother's breast milk is unresponsive to oral zinc supplementation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4356. en:reference lab name:identifier:time reported elsewhere:reference lab test:nominal --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reference lab name:identifier:time reported elsewhere:reference lab test:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4357. en:reference lab test identifier:id:xxx:reference lab test:nom --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reference lab test identifier:id:xxx:reference lab test:nom | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4358. en:reference lab test method:type:time reported elsewhere:reference lab test:narrative --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reference lab test method:type:time reported elsewhere:reference lab test:narrative | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4359. en:reference lab test name:type:time reported elsewhere:reference lab test:nominal --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reference lab test name:type:time reported elsewhere:reference lab test:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4360. en:reference lab test number and name:identifier:time reported elsewhere:reference lab test:nominal --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reference lab test number and name:identifier:time reported elsewhere:reference lab test:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4361. en:reference lab test reference range:finding:time reported elsewhere:reference lab test:nominal --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reference lab test reference range:finding:time reported elsewhere:reference lab test:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4362. en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4363. en:regional, racial, and ethnic clustering has been noted --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:regional, racial, and ethnic clustering has been noted | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4364. en:regression in infancy (in some patients) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:regression in infancy (in some patients) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4365. en:relapsing-remitting course --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:relapsing-remitting course | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4366. en:relationship of rare neuropsychiatric signs to histidinemia is unclear --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:relationship of rare neuropsychiatric signs to histidinemia is unclear | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4367. en:relatively benign course --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:relatively benign course | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4368. en:relatively benign course after acute episodes in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:relatively benign course after acute episodes in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4369. en:relatively mild course --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:relatively mild course | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4370. en:relatively mild cutis laxa, associated with severe vascular abnormalities --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:relatively mild cutis laxa, associated with severe vascular abnormalities | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4371. en:relatively slow progression --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:relatively slow progression | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4372. en:relatives with multiple small congenital pigmented nevi --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:relatives with multiple small congenital pigmented nevi | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4373. en:relief is achieved by cooling or by elevating the extremities --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:relief is achieved by cooling or by elevating the extremities | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4374. en:renal anomalies are not always present --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:renal anomalies are not always present | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4375. en:renal failure in second or third decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:renal failure in second or third decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4376. en:renal involvement and coloboma may not be present --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:renal involvement and coloboma may not be present | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4377. en:repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4378. en:repeat is unstable if > 52 repeats --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:repeat is unstable if > 52 repeats | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4379. en:repeat tracts may expand as patient ages (somatic instability) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:repeat tracts may expand as patient ages (somatic instability) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4380. en:reported cases all sporadic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reported cases all sporadic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4381. en:reported in 1 family (last curated may 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reported in 1 family (last curated may 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4382. en:reported in 2 sibs (february 1991) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reported in 2 sibs (february 1991) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4383. en:reported in a large hutterite family --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reported in a large hutterite family | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4384. en:reported in individuals of amish or mennonite descent --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reported in individuals of amish or mennonite descent | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4385. en:reported in individuals of french canadian origin --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reported in individuals of french canadian origin | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4386. en:reported in individuals of jewish moroccan ancestry --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reported in individuals of jewish moroccan ancestry | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4387. en:reported in individuals of sephardic jewish ancestry --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reported in individuals of sephardic jewish ancestry | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4388. en:reported in the ohio amish anabaptist community --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reported in the ohio amish anabaptist community | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4389. en:resembles intrauterine torch infection but without intrauterine infection --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:resembles intrauterine torch infection but without intrauterine infection | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4390. en:resembles pseudo-torch syndrome (251290) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:resembles pseudo-torch syndrome (251290) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4391. en:residual neurologic deficits are slowly progressive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:residual neurologic deficits are slowly progressive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4392. en:resource identifier:uri:pt:study:nom --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:resource identifier:uri:pt:study:nom | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4393. en:respiratory distress may be precipitated by viral respiratory infection --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:respiratory distress may be precipitated by viral respiratory infection | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4394. en:response to acetazolamide --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:response to acetazolamide | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4395. en:response to benadryl (diphenhydramine) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:response to benadryl (diphenhydramine) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4396. en:response to zinc supplementation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:response to zinc supplementation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4397. en:responsive to high-dose biotin or biotin/thiamine treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:responsive to high-dose biotin or biotin/thiamine treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4398. en:responsive to oral mannose therapy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:responsive to oral mannose therapy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4399. en:responsive to thiazide diuretics --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:responsive to thiazide diuretics | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4400. en:responsive to treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:responsive to treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4401. en:responsive to vitamin b12 therapy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:responsive to vitamin b12 therapy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4402. en:results in severe motor disability and loss of independent ambulation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:results in severe motor disability and loss of independent ambulation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4403. en:reticulate acropigmentation of kitamura (hyperpigmentation found primarily in hands and feet) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reticulate acropigmentation of kitamura (hyperpigmentation found primarily in hands and feet) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4404. en:reticulate hyperpigmentation onset birth - 2 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:reticulate hyperpigmentation onset birth - 2 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4405. en:retinal arteriolar tortuosity develops in adolescence and is progressive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:retinal arteriolar tortuosity develops in adolescence and is progressive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4406. en:retinal degeneration not always present --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:retinal degeneration not always present | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4407. en:retinal hemorrhages usually resolve without sequelae --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:retinal hemorrhages usually resolve without sequelae | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4408. en:retinitis punctata albescens and macular degeneration starting in late childhood to early teens --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:retinitis punctata albescens and macular degeneration starting in late childhood to early teens | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4409. en:rickets and premature primary tooth loss occur in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:rickets and premature primary tooth loss occur in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4410. en:right side affected greater than left side --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:right side affected greater than left side | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4411. 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:incidence of 1 in 250,000 births
    n1=en:risk factors for development of tgct - family history, cryptorchidism (219050), testicular feminization (300068), klinefelter syndrome, previous tgct, gonadal dysgenesis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4412. en:risk of affected offspring in maternal translocation carrier - 4-10% --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:risk of affected offspring in maternal translocation carrier - 4-10% | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4413. en:risk of affected offspring in paternal translocation carrier - 0-7% --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:risk of affected offspring in paternal translocation carrier - 0-7% | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4414. en:risk of sudden death --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:risk of sudden death | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4415. en:risk of sudden death due to cardiac arrhythmias --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:risk of sudden death due to cardiac arrhythmias | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4416. en:risk of sudden death due to cardiac defects --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:risk of sudden death due to cardiac defects | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4417. en:risk of sudden death in childhood due to cardiac arrest --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:risk of sudden death in childhood due to cardiac arrest | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4418. en:risk of sudden death with exertion --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:risk of sudden death with exertion | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4419. en:risk of thromboembolic stroke --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:risk of thromboembolic stroke | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4420. en:sando (607459) is a phenotypic variant of autosomal recessive peo --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:sando (607459) is a phenotypic variant of autosomal recessive peo | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4421. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4422. en:scalp hair quality improves during pregnancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:scalp hair quality improves during pregnancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4423. en:scarf is an acronym - skeletal abnormalities, cutis laxa/craniosynostosis, ambiguous genitalia, retardation, and facial abnormalities --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:scarf is an acronym - skeletal abnormalities, cutis laxa/craniosynostosis, ambiguous genitalia, retardation, and facial abnormalities | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4424. en:seasonal variation in severity of skin symptoms reported by some patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seasonal variation in severity of skin symptoms reported by some patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4425. en:second most common form of usher syndrome type i --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:second most common form of usher syndrome type i | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4426. en:secondary features include arterial hypertension and renal involvement --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:secondary features include arterial hypertension and renal involvement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4427. en:secondary hemorrhage --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:secondary hemorrhage | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4428. en:secondary prevention, avoid smoking, alcohol, and oxidants --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:secondary prevention, avoid smoking, alcohol, and oxidants | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4429. en:secondary tumors develop within the skin lesions --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:secondary tumors develop within the skin lesions | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4430. en:see (277600) for a phenotypically similar autosomal recessive form --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see (277600) for a phenotypically similar autosomal recessive form | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4431. en:see (608328) for a phenotypically similar autosomal dominant form --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see (608328) for a phenotypically similar autosomal dominant form | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4432. en:see 123000 for an autosomal dominant form due to mutation in ankh (605145) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see 123000 for an autosomal dominant form due to mutation in ankh (605145) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4433. en:see 171060.0005 for patients with homozygous abcb4 mutations and unaffected heterozygous family members --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see 171060.0005 for patients with homozygous abcb4 mutations and unaffected heterozygous family members | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4434. en:see 177850 for description of heterozygous phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see 177850 for description of heterozygous phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4435. en:see 218400 for an autosomal recessive form caused by mutation in gja1 (121014.0021) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see 218400 for an autosomal recessive form caused by mutation in gja1 (121014.0021) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4436. en:see 255160 for an autosomal recessive form --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see 255160 for an autosomal recessive form | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4437. en:see 607731 for an autosomal recessive form --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see 607731 for an autosomal recessive form | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4438. en:see 608358 for an autosomal dominant form --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see 608358 for an autosomal dominant form | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4439. en:see 609888 for a discussion on leprosy susceptibility --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see 609888 for a discussion on leprosy susceptibility | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4440. en:see also a childhood-onset form (114100) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also a childhood-onset form (114100) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4441. en:see also adult-onset stiff person syndrome (184850) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also adult-onset stiff person syndrome (184850) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4442. en:see also an adult-onset form (213600) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also an adult-onset form (213600) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4443. en:see also antenatal bartter syndrome type 1 (601678) and bartter syndrome type 2 (241200) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also antenatal bartter syndrome type 1 (601678) and bartter syndrome type 2 (241200) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4444. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4445. en:see also antley-bixler syndrome (abs) with normal steroidogenesis (207410) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also antley-bixler syndrome (abs) with normal steroidogenesis (207410) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4446. en:see also autosomal dominant fmf (134610), caused by heterozygous mutations in the mefv gene --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also autosomal dominant fmf (134610), caused by heterozygous mutations in the mefv gene | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4447. en:see also autosomal dominant form (128230) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also autosomal dominant form (128230) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4448. en:see also autosomal dominant form (160800), which is less common and less severe --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also autosomal dominant form (160800), which is less common and less severe | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4449. en:see also autosomal dominant form (176860) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also autosomal dominant form (176860) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4450. en:see also autosomal dominant giant axonal neuropathy (610100) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also autosomal dominant giant axonal neuropathy (610100) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4451. en:see also autosomal dominant hypophosphatemic rickets (193100) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also autosomal dominant hypophosphatemic rickets (193100) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4452. en:see also autosomal dominant lutheran-null phenotype (111150) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also autosomal dominant lutheran-null phenotype (111150) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4453. en:see also autosomal dominant peoa1 (157640) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also autosomal dominant peoa1 (157640) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4454. en:see also autosomal dominant robinow syndrome (180700) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also autosomal dominant robinow syndrome (180700) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4455. en:see also autosomal dominant sick sinus syndrome (163800) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also autosomal dominant sick sinus syndrome (163800) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4456. en:see also autosomal form, 146450, and another x-linked form, 300633 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also autosomal form, 146450, and another x-linked form, 300633 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4457. en:see also autosomal form, 146450, and another x-linked form, 300758 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also autosomal form, 146450, and another x-linked form, 300758 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4458. en:see also autosomal recessive bh4-dependent hyperphenylalaninemia (233910), an allelic disorder with a more severe phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also autosomal recessive bh4-dependent hyperphenylalaninemia (233910), an allelic disorder with a more severe phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4459. en:see also autosomal recessive familial mediterranean fever (fmf, 249100) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also autosomal recessive familial mediterranean fever (fmf, 249100) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4460. en:see also autosomal recessive form (255700), which is more common and more severe --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also autosomal recessive form (255700), which is more common and more severe | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4461. en:see also autosomal recessive form (612304) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also autosomal recessive form (612304) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4462. en:see also autosomal recessive peob (258450) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also autosomal recessive peob (258450) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4463. en:see also autosomal recessive robinow syndrome (268310) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also autosomal recessive robinow syndrome (268310) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4464. en:see also autosomal recessive sick sinus syndrome (sss1, 608567) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also autosomal recessive sick sinus syndrome (sss1, 608567) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4465. en:see also benign familial infantile convulsions (bfic1, 601764) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also benign familial infantile convulsions (bfic1, 601764) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4466. en:see also benign familial neonatal-infantile convulsions (bfnis, 607745), which shows some phenotypic similarities --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also benign familial neonatal-infantile convulsions (bfnis, 607745), which shows some phenotypic similarities | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4467. en:see also benign neonatal epilepsy (ebn1, 121200) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also benign neonatal epilepsy (ebn1, 121200) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4468. en:see also cblc (277400) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also cblc (277400) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4469. en:see also cbld (277410) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also cbld (277410) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4470. en:see also chromosome 2q32-q33 deletion syndrome (612313) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also chromosome 2q32-q33 deletion syndrome (612313) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4471. en:see also cmtx1 (302800) and cmt3x (302802) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also cmtx1 (302800) and cmt3x (302802) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4472. en:see also cmtx1 (302800) and cmtx2 (302801) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also cmtx1 (302800) and cmtx2 (302801) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4473. en:see also congenital stiff person syndrome (149400) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also congenital stiff person syndrome (149400) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4474. en:see also crigler-najjar syndrome type i (218800) which is also due to mutations in ugt1 (191740) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also crigler-najjar syndrome type i (218800) which is also due to mutations in ugt1 (191740) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4475. en:see also da2b (601680), which is an allelic disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also da2b (601680), which is an allelic disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4476. en:see also dent disease 2 (300555) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also dent disease 2 (300555) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4477. en:see also distal hmn2a (158590) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also distal hmn2a (158590) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4478. en:see also dominant deb (131750), an allelic disorder with a less severe phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also dominant deb (131750), an allelic disorder with a less severe phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4479. en:see also dominant deb (131750), an allelic disorder with a similar phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also dominant deb (131750), an allelic disorder with a similar phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4480. en:see also dyggve-melchior-clausen disease (223800) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also dyggve-melchior-clausen disease (223800) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4481. en:see also dyssegmental dysplasia, silverman-handmaker type (224410) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also dyssegmental dysplasia, silverman-handmaker type (224410) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4482. en:see also ecyt2 (263400) and ecyt3 (609820) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also ecyt2 (263400) and ecyt3 (609820) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4483. en:see also erythrocytosis 1 (ecyt1, 133100) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also erythrocytosis 1 (ecyt1, 133100) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4484. en:see also facial hemihypertrophy (133900) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also facial hemihypertrophy (133900) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4485. en:see also familial cold autoinflammatory syndrome (120100), an allelic disorder with overlapping features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also familial cold autoinflammatory syndrome (120100), an allelic disorder with overlapping features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4486. en:see also familial developmental dysphasia (600117) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also familial developmental dysphasia (600117) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4487. en:see also febrile seizures (feb1, 121210) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also febrile seizures (feb1, 121210) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4488. en:see also french-canadian type of leigh syndrome (220111) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also french-canadian type of leigh syndrome (220111) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4489. en:see also gaucher disease type iii (231000), which is much less severe --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also gaucher disease type iii (231000), which is much less severe | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4490. en:see also glanzmann thrombasthenia due to mutations in integrin alpha 2b (273800) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also glanzmann thrombasthenia due to mutations in integrin alpha 2b (273800) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4491. en:see also glut1ds2 (612126), an allelic disorder with a less severe phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also glut1ds2 (612126), an allelic disorder with a less severe phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4492. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4493. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4494. en:see also hmn2b (608634) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also hmn2b (608634) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4495. en:see also infantile (600649) and late-onset (255110) cpt ii deficiency --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also infantile (600649) and late-onset (255110) cpt ii deficiency | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4496. en:see also isolated pneumothorax (173600), an allelic disorder that may represent a mild form of the bhd syndrome --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also isolated pneumothorax (173600), an allelic disorder that may represent a mild form of the bhd syndrome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4497. en:see also junctional eb with pyloric atresia (226730) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also junctional eb with pyloric atresia (226730) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4498. en:see also later childhood-onset form (300718) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also later childhood-onset form (300718) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4499. en:see also lethal neonatal (608836) and adult forms (255110) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also lethal neonatal (608836) and adult forms (255110) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4500. en:see also mmaa (251100) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also mmaa (251100) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4501. en:see also mmab (251110) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also mmab (251110) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4502. en:see also more severe phenotype peeling skin syndrome (270300) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also more severe phenotype peeling skin syndrome (270300) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4503. en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4504. en:see also oca1a (203100) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also oca1a (203100) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4505. en:see also oca1b, or 'yellow albinism,' an allelic disorder with residual tyrosinase activity and some pigmentation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also oca1b, or 'yellow albinism,' an allelic disorder with residual tyrosinase activity and some pigmentation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4506. en:see also optic atrophy 1 (165500), an allelic disorder without deafness --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also optic atrophy 1 (165500), an allelic disorder without deafness | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4507. en:see also optic atrophy with deafness (125250), an allelic disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also optic atrophy with deafness (125250), an allelic disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4508. en:see also pachyonychia congenita, type 3 (pc1, 167200) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also pachyonychia congenita, type 3 (pc1, 167200) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4509. en:see also park6 (605909), park7 (606324), and park9 (606693) for autosomal recessive disorders with overlapping phenotypes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also park6 (605909), park7 (606324), and park9 (606693) for autosomal recessive disorders with overlapping phenotypes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4510. en:see also peeling skin syndrome, acral type (609796) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also peeling skin syndrome, acral type (609796) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4511. en:see also perinatal lethal variant (608013), which is more severe --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also perinatal lethal variant (608013), which is more severe | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4512. en:see also pfm3 on chromosome 4q21-q23 (609566) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also pfm3 on chromosome 4q21-q23 (609566) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4513. en:see also pgl1 (168000) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also pgl1 (168000) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4514. en:see also pgl2 (601650), pgl3 (605373), and pgl4 (115310) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also pgl2 (601650), pgl3 (605373), and pgl4 (115310) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4515. en:see also pseudohypoparathyroidism type ia (103580) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also pseudohypoparathyroidism type ia (103580) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4516. en:see also pseudohypoparathyroidism type ia (php1a, 103580) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also pseudohypoparathyroidism type ia (php1a, 103580) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4517. en:see also pseudohypoparathyroidism type ib (603233) and ic (612462) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also pseudohypoparathyroidism type ib (603233) and ic (612462) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4518. en:see also pseudopseudohypoparathyroidism (612463) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also pseudopseudohypoparathyroidism (612463) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4519. en:see also recessive deb (226600), an allelic disorder with a more severe phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also recessive deb (226600), an allelic disorder with a more severe phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4520. en:see also severe, early-onset form (300717) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also severe, early-onset form (300717) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4521. en:see also simplex eb with pyloric atresia (612138) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also simplex eb with pyloric atresia (612138) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4522. en:see also simpson-golabi-behmel syndrome 1 (sgbs1, 312870) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also simpson-golabi-behmel syndrome 1 (sgbs1, 312870) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4523. en:see also the autosomal recessive form (243000) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also the autosomal recessive form (243000) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4524. en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4525. en:see also the lethal neonatal (608836) and infantile (600649) forms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also the lethal neonatal (608836) and infantile (600649) forms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4526. en:see also the non-herlitz type of jeb (226650), a less severe disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also the non-herlitz type of jeb (226650), a less severe disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4527. en:see also the x-linked form (300291) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also the x-linked form (300291) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4528. en:see also two x-linked forms 300633 and 300758 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also two x-linked forms 300633 and 300758 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4529. en:see also x-linked (310400) and autosomal dominant (160150) forms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also x-linked (310400) and autosomal dominant (160150) forms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4530. en:see also x-linked alpha-thalassemia/mental retardation syndrome (301040) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also x-linked alpha-thalassemia/mental retardation syndrome (301040) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4531. en:see also x-linked dominant form (300652) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also x-linked dominant form (300652) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4532. en:see also x-linked edmd (310300) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also x-linked edmd (310300) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4533. en:see also x-linked leigh syndrome (312170) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see also x-linked leigh syndrome (312170) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4534. 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:incidence of 1 in 250,000 births
    n1=en:see also x-linked nephrocalcinosis (310468), x-linked recessive hypophosphatemic rickets (300554), and low-molecular-weight proteinuria with nephrocalcinosis (308990) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4535. en:see cmt4a (214400) for autosomal recessive demyelinating forms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see cmt4a (214400) for autosomal recessive demyelinating forms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4536. en:see ebn1 (121200) for an autosomal dominant form --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see ebn1 (121200) for an autosomal dominant form | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4537. en:see entry 104300 for general information on alzheimer disease --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see entry 104300 for general information on alzheimer disease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4538. en:see joubert syndrome 7 (611560), an allelic disorder with a less severe phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see joubert syndrome 7 (611560), an allelic disorder with a less severe phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4539. en:see myotonic dystonia 1 (dm1, 160900) for a disorder with a similar phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see myotonic dystonia 1 (dm1, 160900) for a disorder with a similar phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4540. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4541. en:see speech-language disorder 1 602081 and familial developmental dysphasia 600117 for similar disorders --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see speech-language disorder 1 602081 and familial developmental dysphasia 600117 for similar disorders | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4542. en:see the more common methemoglobinemia types i and ii (250800) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:see the more common methemoglobinemia types i and ii (250800) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4543. en:seen more frequently in infants of diabetic mothers --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seen more frequently in infants of diabetic mothers | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4544. en:segmental distribution often affecting 1 limb --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:segmental distribution often affecting 1 limb | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4545. en:seizure frequency decreases during early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizure frequency decreases during early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4546. en:seizure onset after 3 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizure onset after 3 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4547. en:seizure onset at a mean of 14 months (range 6 to 36 months) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizure onset at a mean of 14 months (range 6 to 36 months) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4548. en:seizure onset between 3 and 11 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizure onset between 3 and 11 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4549. en:seizure onset in first months or years of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizure onset in first months or years of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4550. en:seizure severity and frequency tend to improve with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizure severity and frequency tend to improve with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4551. en:seizures and cognitive involvement are variable findings --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures and cognitive involvement are variable findings | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4552. en:seizures and dystonia peak during childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures and dystonia peak during childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4553. en:seizures are easily controlled by medications --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures are easily controlled by medications | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4554. en:seizures are fever-sensitive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures are fever-sensitive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4555. en:seizures are followed by drowsiness in most cases --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures are followed by drowsiness in most cases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4556. en:seizures are often refractory --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures are often refractory | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4557. en:seizures are poorly responsive to treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures are poorly responsive to treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4558. en:seizures are provoked by immersion in hot or warm water --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures are provoked by immersion in hot or warm water | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4559. en:seizures are refractory --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures are refractory | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4560. en:seizures are refractory to medication --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures are refractory to medication | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4561. en:seizures are refractory to treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures are refractory to treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4562. en:seizures are responsive to pyridoxine treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures are responsive to pyridoxine treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4563. en:seizures are sensitive to hyperventilation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures are sensitive to hyperventilation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4564. en:seizures are usually intractable --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures are usually intractable | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4565. en:seizures are usually refractory --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures are usually refractory | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4566. en:seizures are usually refractory at first --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures are usually refractory at first | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4567. en:seizures become nearly continuous --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures become nearly continuous | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4568. en:seizures easily controlled by medications --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures easily controlled by medications | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4569. en:seizures last about 30 seconds to 3 minutes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures last about 30 seconds to 3 minutes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4570. en:seizures may be precipitated by sleep deprivation, alcohol consumption, or flashing lights --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures may be precipitated by sleep deprivation, alcohol consumption, or flashing lights | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4571. en:seizures may be refractory --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures may be refractory | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4572. en:seizures may be triggered by infection --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures may be triggered by infection | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4573. en:seizures may improve with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures may improve with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4574. en:seizures may occur upon awakening or at any time during the day --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures may occur upon awakening or at any time during the day | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4575. en:seizures may occur with illness --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures may occur with illness | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4576. en:seizures may persist into adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures may persist into adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4577. en:seizures may remit in adolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures may remit in adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4578. en:seizures may remit with age (in some patients) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures may remit with age (in some patients) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4579. en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4580. en:seizures occur upon awakening --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures occur upon awakening | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4581. en:seizures precipitated by fatigue or alcohol --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures precipitated by fatigue or alcohol | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4582. en:seizures recur in 33% of patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures recur in 33% of patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4583. en:seizures remit by age 5 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures remit by age 5 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4584. en:seizures remit in early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures remit in early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4585. en:seizures remit in later childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures remit in later childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4586. en:seizures resolve by 4 months of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures resolve by 4 months of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4587. en:seizures tend to become more focal with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures tend to become more focal with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4588. en:seizures tend to occur upon awakening --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures tend to occur upon awakening | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4589. en:seizures tend to remit later in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures tend to remit later in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4590. en:seizures usually occur in the first months of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures usually occur in the first months of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4591. en:seizures usually remit in adolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures usually remit in adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4592. en:seizures usually remit spontaneously by 12 months of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures usually remit spontaneously by 12 months of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4593. en:seizures, recurrent, refractory --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seizures, recurrent, refractory | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4594. en:sensory loss is rapidly progressive and severe --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:sensory loss is rapidly progressive and severe | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4595. en:serum triglycerides decrease with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:serum triglycerides decrease with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4596. 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:incidence of 1 in 250,000 births
    n1=en:service comment 01:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4597. 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:incidence of 1 in 250,000 births
    n1=en:service comment 02:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4598. 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:incidence of 1 in 250,000 births
    n1=en:service comment 03:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4599. 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:incidence of 1 in 250,000 births
    n1=en:service comment 04:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4600. 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:incidence of 1 in 250,000 births
    n1=en:service comment 05:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4601. 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:incidence of 1 in 250,000 births
    n1=en:service comment 06:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4602. 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:incidence of 1 in 250,000 births
    n1=en:service comment 07:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4603. 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:incidence of 1 in 250,000 births
    n1=en:service comment 08:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4604. 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:incidence of 1 in 250,000 births
    n1=en:service comment 09:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4605. 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:incidence of 1 in 250,000 births
    n1=en:service comment 10:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4606. 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:incidence of 1 in 250,000 births
    n1=en:service comment 11:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4607. 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:incidence of 1 in 250,000 births
    n1=en:service comment 12:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4608. 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:incidence of 1 in 250,000 births
    n1=en:service comment 13:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4609. 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:incidence of 1 in 250,000 births
    n1=en:service comment 14:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4610. 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:incidence of 1 in 250,000 births
    n1=en:service comment 15:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4611. 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:incidence of 1 in 250,000 births
    n1=en:service comment 16:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4612. 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:incidence of 1 in 250,000 births
    n1=en:service comment 17:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4613. 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:incidence of 1 in 250,000 births
    n1=en:service comment 18:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4614. 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:incidence of 1 in 250,000 births
    n1=en:service comment 19:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4615. 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:incidence of 1 in 250,000 births
    n1=en:service comment 20:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4616. 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:incidence of 1 in 250,000 births
    n1=en:service comment 21:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4617. 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:incidence of 1 in 250,000 births
    n1=en:service comment 22:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4618. 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:incidence of 1 in 250,000 births
    n1=en:service comment 23:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4619. 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:incidence of 1 in 250,000 births
    n1=en:service comment 24:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4620. 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:incidence of 1 in 250,000 births
    n1=en:service comment 25:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4621. 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:incidence of 1 in 250,000 births
    n1=en:service comment 26:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4622. 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:incidence of 1 in 250,000 births
    n1=en:service comment 27:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4623. 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:incidence of 1 in 250,000 births
    n1=en:service comment 28:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4624. 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:incidence of 1 in 250,000 births
    n1=en:service comment 29:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4625. 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:incidence of 1 in 250,000 births
    n1=en:service comment 30:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4626. 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:incidence of 1 in 250,000 births
    n1=en:service comment 31:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4627. 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:incidence of 1 in 250,000 births
    n1=en:service comment 32:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4628. 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:incidence of 1 in 250,000 births
    n1=en:service comment 33:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4629. 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:incidence of 1 in 250,000 births
    n1=en:service comment 34:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4630. 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:incidence of 1 in 250,000 births
    n1=en:service comment 35:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4631. 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:incidence of 1 in 250,000 births
    n1=en:service comment 36:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4632. 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:incidence of 1 in 250,000 births
    n1=en:service comment 37:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4633. 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:incidence of 1 in 250,000 births
    n1=en:service comment 38:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4634. 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:incidence of 1 in 250,000 births
    n1=en:service comment 39:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4635. 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:incidence of 1 in 250,000 births
    n1=en:service comment 40:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4636. 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:incidence of 1 in 250,000 births
    n1=en:service comment 41:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4637. 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:incidence of 1 in 250,000 births
    n1=en:service comment 42:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4638. 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:incidence of 1 in 250,000 births
    n1=en:service comment 43:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4639. 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:incidence of 1 in 250,000 births
    n1=en:service comment 44:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4640. 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:incidence of 1 in 250,000 births
    n1=en:service comment 45:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4641. 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:incidence of 1 in 250,000 births
    n1=en:service comment 46:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4642. 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:incidence of 1 in 250,000 births
    n1=en:service comment 47:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4643. 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:incidence of 1 in 250,000 births
    n1=en:service comment 48:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4644. 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:incidence of 1 in 250,000 births
    n1=en:service comment 49:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4645. 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:incidence of 1 in 250,000 births
    n1=en:service comment 50:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4646. 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:incidence of 1 in 250,000 births
    n1=en:service comment 51:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4647. 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:incidence of 1 in 250,000 births
    n1=en:service comment 52:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4648. 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:incidence of 1 in 250,000 births
    n1=en:service comment 53:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4649. 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:incidence of 1 in 250,000 births
    n1=en:service comment 54:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4650. 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:incidence of 1 in 250,000 births
    n1=en:service comment 55:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4651. 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:incidence of 1 in 250,000 births
    n1=en:service comment 56:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4652. 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:incidence of 1 in 250,000 births
    n1=en:service comment 57:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4653. 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:incidence of 1 in 250,000 births
    n1=en:service comment 58:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4654. 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:incidence of 1 in 250,000 births
    n1=en:service comment 59:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4655. 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:incidence of 1 in 250,000 births
    n1=en:service comment 60:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4656. 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:incidence of 1 in 250,000 births
    n1=en:service comment 61:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4657. 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:incidence of 1 in 250,000 births
    n1=en:service comment 62:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4658. 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:incidence of 1 in 250,000 births
    n1=en:service comment 63:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4659. 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:incidence of 1 in 250,000 births
    n1=en:service comment 64:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4660. 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:incidence of 1 in 250,000 births
    n1=en:service comment 65:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4661. 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:incidence of 1 in 250,000 births
    n1=en:service comment 66:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4662. 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:incidence of 1 in 250,000 births
    n1=en:service comment 67:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4663. 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:incidence of 1 in 250,000 births
    n1=en:service comment 68:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4664. 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:incidence of 1 in 250,000 births
    n1=en:service comment 69:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4665. 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:incidence of 1 in 250,000 births
    n1=en:service comment 70:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4666. 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:incidence of 1 in 250,000 births
    n1=en:service comment 71:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4667. 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:incidence of 1 in 250,000 births
    n1=en:service comment 72:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4668. 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:incidence of 1 in 250,000 births
    n1=en:service comment 73:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4669. 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:incidence of 1 in 250,000 births
    n1=en:service comment 74:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4670. 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:incidence of 1 in 250,000 births
    n1=en:service comment 75:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4671. 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:incidence of 1 in 250,000 births
    n1=en:service comment 76:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4672. 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:incidence of 1 in 250,000 births
    n1=en:service comment 77:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4673. 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:incidence of 1 in 250,000 births
    n1=en:service comment 78:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4674. 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:incidence of 1 in 250,000 births
    n1=en:service comment 79:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4675. 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:incidence of 1 in 250,000 births
    n1=en:service comment 80:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4676. en:seven patients reported (as of march 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seven patients reported (as of march 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4677. en:seventy percent of cases are stillborn --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seventy percent of cases are stillborn | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4678. en:seventy percent of cases have associated anomalies --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:seventy percent of cases have associated anomalies | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4679. en:several forms of autosomal recessive spastic paraplegia (see 270800) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:several forms of autosomal recessive spastic paraplegia (see 270800) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4680. en:severe clinical course --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:severe clinical course | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4681. en:severe course --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:severe course | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4682. en:severe disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:severe disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4683. en:severe epilepsy may lead to early death --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:severe epilepsy may lead to early death | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4684. en:severe form with onset at 3 to 4 months of age and severe developmental delay --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:severe form with onset at 3 to 4 months of age and severe developmental delay | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4685. en:severe hearing loss by age 50 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:severe hearing loss by age 50 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4686. en:severe incapacitation in 10-20 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:severe incapacitation in 10-20 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4687. en:severe infantile cases usually die by 6 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:severe infantile cases usually die by 6 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4688. en:severe infantile form presents before 6 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:severe infantile form presents before 6 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4689. en:severe infections in untreated patients with neutropenia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:severe infections in untreated patients with neutropenia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4690. en:severe involvement of legs --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:severe involvement of legs | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4691. en:severe neurodegenerative course resulting in a comatose state or death --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:severe neurodegenerative course resulting in a comatose state or death | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4692. en:severe phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:severe phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4693. en:severe phenotype onset - neonate --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:severe phenotype onset - neonate | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4694. en:severe volume depletion --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:severe volume depletion | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4695. en:severe, early-onset, usually within the first days of life, with cardiomyopathy and early death --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:severe, early-onset, usually within the first days of life, with cardiomyopathy and early death | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4696. en:severely affected individuals may carry 2 mutated alleles --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:severely affected individuals may carry 2 mutated alleles | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4697. en:severity of clinical phenotype varies both within and between kindreds --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:severity of clinical phenotype varies both within and between kindreds | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4698. en:severity of hematologic disorder decreases with advancing age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:severity of hematologic disorder decreases with advancing age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4699. en:severity of phenotype is not related to residual enzyme activity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:severity of phenotype is not related to residual enzyme activity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4700. en:severity of phenotype may vary with x-inactivation patterns and/or mutation type --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:severity of phenotype may vary with x-inactivation patterns and/or mutation type | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4701. en:severity of skin symptoms may vary within families --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:severity of skin symptoms may vary within families | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4702. en:sex ratio - 2 females to 1 male --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:sex ratio - 2 females to 1 male | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4703. en:sex ratio - 2.3 males-to-1 female --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:sex ratio - 2.3 males-to-1 female | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4704. en:sex ratio of 4-4.5 males to 1 female --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:sex ratio of 4-4.5 males to 1 female | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4705. en:shields classification - --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:shields classification - | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4706. en:short is an acronym for short stature, hyperextensibility of joints/hernia, ocular depression, rieger anomaly, teething delay --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:short is an acronym for short stature, hyperextensibility of joints/hernia, ocular depression, rieger anomaly, teething delay | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4707. en:short limbs become more apparent during childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:short limbs become more apparent during childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4708. en:short stepped shuffling gait --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:short stepped shuffling gait | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4709. en:significant clinical overlap with sotos syndrome (117550) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:significant clinical overlap with sotos syndrome (117550) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4710. en:significant number of patients are stillborn or die in neonatal period --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:significant number of patients are stillborn or die in neonatal period | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4711. en:significant phenotypic variability --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:significant phenotypic variability | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4712. en:signs and symptoms depend on tumor location and activity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:signs and symptoms depend on tumor location and activity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4713. en:similar clinical features to edsi (130000) but less severe --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:similar clinical features to edsi (130000) but less severe | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4714. en:similar clinical phenotype to edsiii (130020) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:similar clinical phenotype to edsiii (130020) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4715. en:similar disorder to x-linked pelizaeus-merzbacher disease (pmd, 312080) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:similar disorder to x-linked pelizaeus-merzbacher disease (pmd, 312080) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4716. en:similar phenotype to juvenile neuronal ceroid lipofuscinosis 3 (cln3, 204200) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:similar phenotype to juvenile neuronal ceroid lipofuscinosis 3 (cln3, 204200) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4717. en:similar phenotype to x-linked hypophosphatemia (xlh, 307800) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:similar phenotype to x-linked hypophosphatemia (xlh, 307800) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4718. en:similar to infantile neuroaxonal dystrophy (inad, 256600) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:similar to infantile neuroaxonal dystrophy (inad, 256600) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4719. en:similar to spondylometaphyseal dysplasia, type a4 (609052) but without anterior tonguing of vertebrae --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:similar to spondylometaphyseal dysplasia, type a4 (609052) but without anterior tonguing of vertebrae | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4720. en:simple febrile seizures usually remit by age 6 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:simple febrile seizures usually remit by age 6 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4721. en:single lesions in sporadic cases --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:single lesions in sporadic cases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4722. en:single mitochondrial dna deletions are found in sporadic kss patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:single mitochondrial dna deletions are found in sporadic kss patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4723. en:sister of affected male siblings had mild learning disabilities and obesity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:sister of affected male siblings had mild learning disabilities and obesity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4724. en:six genetically confirmed patients have been reported (as of december 2009) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:six genetically confirmed patients have been reported (as of december 2009) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4725. en:six patients from 1 saudi arabian family have been reported (last curated december 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:six patients from 1 saudi arabian family have been reported (last curated december 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4726. en:six patients from 4 families have been reported (last curated january 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:six patients from 4 families have been reported (last curated january 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4727. en:six patients have been reported (5/18/2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:six patients have been reported (5/18/2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4728. en:six patients have been reported (as of july 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:six patients have been reported (as of july 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4729. en:six patients reported (last curated march 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:six patients reported (last curated march 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4730. en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4731. en:skeletal abnormalities are variable --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:skeletal abnormalities are variable | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4732. en:skeletal and endocrine features have not been fully characterized in all of the patients reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:skeletal and endocrine features have not been fully characterized in all of the patients reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4733. en:skewed x-inactivation in carriers --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:skewed x-inactivation in carriers | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4734. en:skin abnormalities can be present at birth or appear later in infancy or childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:skin abnormalities can be present at birth or appear later in infancy or childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4735. en:skin abnormalities tend to decrease with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:skin abnormalities tend to decrease with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4736. en:skin appears normal at birth, with development of generalized ichthyosis in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:skin appears normal at birth, with development of generalized ichthyosis in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4737. en:skin blistering and photosensitivity improve in adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:skin blistering and photosensitivity improve in adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4738. en:skin changes are progressive in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:skin changes are progressive in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4739. en:skin changes have onset in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:skin changes have onset in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4740. en:skin erythroderma may resolve early, leaving atrophic lesions --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:skin erythroderma may resolve early, leaving atrophic lesions | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4741. en:skin lesion appear shortly after birth and tend to disappear in young adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:skin lesion appear shortly after birth and tend to disappear in young adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4742. en:skin lesions are fully penetrant by second decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:skin lesions are fully penetrant by second decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4743. en:skin lesions are primarily trauma-induced but occasionally appear spontaneously --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:skin lesions are primarily trauma-induced but occasionally appear spontaneously | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4744. en:skin lesions exacerbated by heat, exercise (sweating), and sunlight --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:skin lesions exacerbated by heat, exercise (sweating), and sunlight | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4745. en:skin lesions improve in the summer --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:skin lesions improve in the summer | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4746. en:skin lesions manifest in the first year of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:skin lesions manifest in the first year of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4747. en:skin lesions resolve between 6 months and 2 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:skin lesions resolve between 6 months and 2 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4748. en:skin lesions tend to occur on distal extremities or at elbows and knees --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:skin lesions tend to occur on distal extremities or at elbows and knees | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4749. en:skin lesions worsen with heat or sun exposure --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:skin lesions worsen with heat or sun exposure | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4750. en:skin manifestation less frequently observed in cold climates --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:skin manifestation less frequently observed in cold climates | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4751. 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:incidence of 1 in 250,000 births
    n1=en:skin manifestations appear in infancy or childhood and are gradually progressive until the mid-to-late second decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4752. en:skin manifestations are more severe and of later onset than papillon-lefevre syndrome --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:skin manifestations are more severe and of later onset than papillon-lefevre syndrome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4753. en:skin manifestations may not be present --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:skin manifestations may not be present | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4754. en:skin peeling exacerbated by heat, friction, and humidity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:skin peeling exacerbated by heat, friction, and humidity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4755. en:skin wrinkling improves with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:skin wrinkling improves with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4756. en:slc25a4 mutations account for approximately 4% of all peo cases --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:slc25a4 mutations account for approximately 4% of all peo cases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4757. en:sleep disturbance or sleep apnea (obstructive, central, or mixed) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:sleep disturbance or sleep apnea (obstructive, central, or mixed) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4758. en:sleep terrors usually remit during adolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:sleep terrors usually remit during adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4759. en:sleepwalking triggered by alcohol, sleep deprivation, stress --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:sleepwalking triggered by alcohol, sleep deprivation, stress | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4760. en:sleepwalking usually remits in adolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:sleepwalking usually remits in adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4761. en:slight increased risk for malignancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:slight increased risk for malignancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4762. en:slightly increased female:male ratio (1.4:1 to 2:1) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:slightly increased female:male ratio (1.4:1 to 2:1) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4763. en:slow course of functional deterioration compared to severity of mri findings --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:slow course of functional deterioration compared to severity of mri findings | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4764. en:slow or nonprogressive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:slow or nonprogressive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4765. en:slow progression --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:slow progression | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4766. en:slow progression without marked disability --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:slow progression without marked disability | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4767. en:slow, progressive growth, then stable --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:slow, progressive growth, then stable | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4768. en:slowly or non-progressive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:slowly or non-progressive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4769. en:slowly or nonprogressive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:slowly or nonprogressive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4770. en:slowly progressive disease --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:slowly progressive disease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4771. en:slowly progressive or nonprogressive course --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:slowly progressive or nonprogressive course | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4772. en:smaller repeat lengths in younger generations (reverse anticipation) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:smaller repeat lengths in younger generations (reverse anticipation) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4773. en:solitary disease is more common in males --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:solitary disease is more common in males | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4774. en:somatic mutations occur in adrenal tumor tissue (601639.0001) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:somatic mutations occur in adrenal tumor tissue (601639.0001) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4775. en:somatic or germline mosaicism may occur --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:somatic or germline mosaicism may occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4776. en:some affected individuals have normal subsequent development --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some affected individuals have normal subsequent development | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4777. en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4778. en:some carrier females have episodes of significant hyperammonemia in infancy or childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some carrier females have episodes of significant hyperammonemia in infancy or childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4779. en:some carrier females have mild features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some carrier females have mild features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4780. en:some carrier females may manifest mild symptoms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some carrier females may manifest mild symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4781. en:some familial occurrence, most de novo aberrations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some familial occurrence, most de novo aberrations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4782. en:some families have axonal cmt (cmt2m) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some families have axonal cmt (cmt2m) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4783. en:some features are variable --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some features are variable | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4784. en:some features are variable, even within families --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some features are variable, even within families | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4785. en:some features are variably expressed --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some features are variably expressed | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4786. en:some features are variably present --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some features are variably present | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4787. en:some features may be progressive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some features may be progressive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4788. en:some features may be variable --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some features may be variable | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4789. en:some features occur in adolescence, including migraine, seizures, and psychiatric disorders --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some features occur in adolescence, including migraine, seizures, and psychiatric disorders | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4790. en:some female carriers are more mildly affected --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some female carriers are more mildly affected | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4791. en:some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4792. en:some females are affected --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some females are affected | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4793. en:some females have only deafness and ovarian dysgenesis without neurologic abnormalities --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some females have only deafness and ovarian dysgenesis without neurologic abnormalities | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4794. en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4795. en:some heterozygotes may have increased urinary excretion of cystine and may develop stones --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some heterozygotes may have increased urinary excretion of cystine and may develop stones | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4796. en:some heterozygous carriers may have mild manifestations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some heterozygous carriers may have mild manifestations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4797. en:some heterozygous cpt2 mutation carriers may be symptomatic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some heterozygous cpt2 mutation carriers may be symptomatic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4798. en:some more severely affected patients may die in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some more severely affected patients may die in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4799. en:some mutation carriers have mild features of frontonasal dysplasia (613451) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some mutation carriers have mild features of frontonasal dysplasia (613451) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4800. 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:incidence of 1 in 250,000 births
    n1=en:some mutations have been found in homozygosity and the phenotype is more severe than that of the heterozygous parents | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4801. en:some patients acquire late ambulation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients acquire late ambulation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4802. en:some patients are asymptomatic and detected only by newborn screening --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients are asymptomatic and detected only by newborn screening | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4803. en:some patients are clinically unaffected. --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients are clinically unaffected. | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4804. en:some patients become wheelchair-bound --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients become wheelchair-bound | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4805. 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:incidence of 1 in 250,000 births
    n1=en:some patients born in consanguineous families may carry homozygous mutations, but the phenotype does not appear to be more severe | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4806. en:some patients can attend special school --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients can attend special school | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4807. en:some patients can be treated with large doses of vitamin d and calcium --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients can be treated with large doses of vitamin d and calcium | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4808. en:some patients can hold menial jobs --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients can hold menial jobs | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4809. en:some patients carry heterozygous mutations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients carry heterozygous mutations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4810. en:some patients develop diabetes mellitus as adolescents --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients develop diabetes mellitus as adolescents | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4811. en:some patients develop ophthalmoplegia in middle age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients develop ophthalmoplegia in middle age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4812. en:some patients do not achieve independent ambulation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients do not achieve independent ambulation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4813. en:some patients do not develop renal failure --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients do not develop renal failure | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4814. en:some patients do not develop stroke --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients do not develop stroke | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4815. en:some patients do not have bone disease --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients do not have bone disease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4816. en:some patients do not have dysmorphic features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients do not have dysmorphic features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4817. en:some patients do not have thin corpus callosum --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients do not have thin corpus callosum | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4818. en:some patients do not manifest renal disease in the first decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients do not manifest renal disease in the first decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4819. en:some patients do not reach end-stage renal failure --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients do not reach end-stage renal failure | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4820. en:some patients do not show neurologic abnormalities or dysmorphic features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients do not show neurologic abnormalities or dysmorphic features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4821. en:some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4822. en:some patients experience later reversal of hypogonadotropic hypogonadism --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients experience later reversal of hypogonadotropic hypogonadism | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4823. en:some patients have a contiguous gene defect involving both the cyp21a2 (613815) and the tnxb (600985) genes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients have a contiguous gene defect involving both the cyp21a2 (613815) and the tnxb (600985) genes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4824. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4825. en:some patients have a crouzon-like appearance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients have a crouzon-like appearance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4826. en:some patients have a milder nonprogressive phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients have a milder nonprogressive phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4827. en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4828. en:some patients have a secreted but biologically inactive mutant leptin --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients have a secreted but biologically inactive mutant leptin | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4829. en:some patients have a severe phenotype with neurologic manifestations beginning at birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients have a severe phenotype with neurologic manifestations beginning at birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4830. en:some patients have additional neurologic involvement --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients have additional neurologic involvement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4831. en:some patients have an attenuated phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients have an attenuated phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4832. en:some patients have asymptomatic hypocalcemia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients have asymptomatic hypocalcemia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4833. en:some patients have cessation of seizures at a mean of 12 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients have cessation of seizures at a mean of 12 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4834. en:some patients have isolated cfeom --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients have isolated cfeom | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4835. en:some patients have juvenile-onset myoclonic epilepsy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients have juvenile-onset myoclonic epilepsy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4836. en:some patients have later onset and more variable phenotype (mngie) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients have later onset and more variable phenotype (mngie) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4837. en:some patients have later onset of the disorder as young adults --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients have later onset of the disorder as young adults | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4838. en:some patients have milder persistent blistering --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients have milder persistent blistering | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4839. en:some patients have milder phenotype with later onset of symptoms, in second to third decades of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients have milder phenotype with later onset of symptoms, in second to third decades of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4840. en:some patients have no clinical symptoms and are detected by routine newborn screening --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients have no clinical symptoms and are detected by routine newborn screening | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4841. en:some patients have no manifestations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients have no manifestations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4842. en:some patients have no or mild manifestations and normal development --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients have no or mild manifestations and normal development | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4843. en:some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4844. en:some patients have only ocular involvement or only oral involvement --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients have only ocular involvement or only oral involvement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4845. en:some patients have only plantar surface involvement --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients have only plantar surface involvement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4846. 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:incidence of 1 in 250,000 births
    n1=en:some patients have onset at birth or in early infancy, whereas other have onset in late childhood or adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4847. en:some patients have persistence of seizures to adulthood, but then show remission --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients have persistence of seizures to adulthood, but then show remission | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4848. en:some patients have subclinical exocrine pancreatic deficiency --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients have subclinical exocrine pancreatic deficiency | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4849. en:some patients may be asymptomatic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may be asymptomatic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4850. en:some patients may be clinically asymptomatic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may be clinically asymptomatic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4851. en:some patients may become bedridden 10 to 20 years after onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may become bedridden 10 to 20 years after onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4852. en:some patients may become wheelchair-bound --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may become wheelchair-bound | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4853. en:some patients may benefit from coenzyme q10 treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may benefit from coenzyme q10 treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4854. en:some patients may develop concurrent failure to thrive and dyslipidemia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may develop concurrent failure to thrive and dyslipidemia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4855. en:some patients may develop interictal progressive ataxia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may develop interictal progressive ataxia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4856. en:some patients may die from cardiomyopathy in the first or second decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may die from cardiomyopathy in the first or second decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4857. 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:incidence of 1 in 250,000 births
    n1=en:some patients may die in infancy, whereas others survive into adulthood and are only mildly affected or essentially clinically asymptomatic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4858. en:some patients may have a milder phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may have a milder phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4859. en:some patients may have a more protracted disorder with neurodegeneration --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may have a more protracted disorder with neurodegeneration | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4860. en:some patients may have isolated cardiac involvement --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may have isolated cardiac involvement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4861. en:some patients may have isolated myokymia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may have isolated myokymia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4862. en:some patients may have normal brain imaging --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may have normal brain imaging | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4863. en:some patients may have normal development until onset of seizures in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may have normal development until onset of seizures in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4864. en:some patients may have normal psychomotor development --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may have normal psychomotor development | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4865. en:some patients may have residual muscle weakness --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may have residual muscle weakness | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4866. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4867. en:some patients may live to adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may live to adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4868. en:some patients may not achieve walking --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may not achieve walking | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4869. en:some patients may not have recurrent infections --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may not have recurrent infections | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4870. en:some patients may present with adult-onset small fiber neuropathy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may present with adult-onset small fiber neuropathy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4871. en:some patients may present with transient neonatal hypotonia, and then later develop classic pmc in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may present with transient neonatal hypotonia, and then later develop classic pmc in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4872. en:some patients may respond to thiamine treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may respond to thiamine treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4873. en:some patients may show mild decrease in head circumference over time --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may show mild decrease in head circumference over time | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4874. en:some patients may show neurologic improvement late in life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may show neurologic improvement late in life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4875. en:some patients may show response to immunosuppressive agents --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients may show response to immunosuppressive agents | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4876. en:some patients never achieve sitting --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients never achieve sitting | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4877. en:some patients never achieve walking or running --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients never achieve walking or running | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4878. en:some patients present with apparent nonsyndromic dilated cardiomyopathy in early childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients present with apparent nonsyndromic dilated cardiomyopathy in early childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4879. en:some patients present with spasticity, whereas others present with cerebellar ataxia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients present with spasticity, whereas others present with cerebellar ataxia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4880. en:some patients report cyclical changes in severity of symptoms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients report cyclical changes in severity of symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4881. en:some patients report increased tolerance to heat --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients report increased tolerance to heat | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4882. en:some patients report seasonal variation in symptoms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients report seasonal variation in symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4883. en:some patients require cardiac transplantation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients require cardiac transplantation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4884. en:some patients require insulin for treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients require insulin for treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4885. en:some patients respond to acetazolamide --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients respond to acetazolamide | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4886. en:some patients show delayed development from birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients show delayed development from birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4887. en:some patients show improvement in muscle power in the teenage years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients show improvement in muscle power in the teenage years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4888. en:some patients show infantile onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients show infantile onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4889. en:some patients show no bleeding abnormalities --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients show no bleeding abnormalities | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4890. en:some patients show normal development until onset of disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients show normal development until onset of disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4891. en:some patients show onset in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients show onset in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4892. en:some patients show onset later in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients show onset later in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4893. en:some patients show rapid disease progression --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients show rapid disease progression | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4894. en:some patients show significant clinical improvement with riboflavin supplementation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients show significant clinical improvement with riboflavin supplementation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4895. en:some patients survive infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients survive infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4896. en:some patients with 2 opa1 mutations have a more severe phenotype with earlier onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients with 2 opa1 mutations have a more severe phenotype with earlier onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4897. en:some patients with heterozygous mutations may be symptomatic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some patients with heterozygous mutations may be symptomatic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4898. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4899. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4900. en:some pedigrees are consistent with autosomal dominant inheritance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some pedigrees are consistent with autosomal dominant inheritance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4901. en:some phenotypic overlap with alpers syndrome (mtdps4a, 203700) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some phenotypic overlap with alpers syndrome (mtdps4a, 203700) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4902. en:some phenotypic overlap with rett syndrome (312750) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some phenotypic overlap with rett syndrome (312750) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4903. en:some response to l-dopa therapy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:some response to l-dopa therapy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4904. en:sparing of some nails in some individuals --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:sparing of some nails in some individuals | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4905. en:spastic paraplegia 2 (spg2, 312920) is an allelic disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:spastic paraplegia 2 (spg2, 312920) is an allelic disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4906. en:spasticity is slowly progressive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:spasticity is slowly progressive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4907. en:spasticity occurs before parkinsonism --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:spasticity occurs before parkinsonism | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4908. en:spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4909. en:spinal involvement improves with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:spinal involvement improves with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4910. en:spinal tumors are necessary for diagnosis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:spinal tumors are necessary for diagnosis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4911. en:splenectomy increases thrombotic risk in these patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:splenectomy increases thrombotic risk in these patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4912. en:spontaneous bleeding is rare --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:spontaneous bleeding is rare | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4913. en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4914. en:spontaneous resolution by 12 months of age with no recurrence later in life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:spontaneous resolution by 12 months of age with no recurrence later in life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4915. en:spontaneous resolution of seizures by 12 months of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:spontaneous resolution of seizures by 12 months of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4916. en:spontaneous resolution usually after 12 months of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:spontaneous resolution usually after 12 months of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4917. en:spontaneous resorption (rare) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:spontaneous resorption (rare) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4918. en:spontaneous reversal of gnrh deficiency may occur in some patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:spontaneous reversal of gnrh deficiency may occur in some patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4919. en:spontaneous tumor regression may occur --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:spontaneous tumor regression may occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4920. en:spontaneously resolves by 5 to 6 months of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:spontaneously resolves by 5 to 6 months of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4921. en:sporadic cases often single lesions versus multiple lesions in familial cases --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:sporadic cases often single lesions versus multiple lesions in familial cases | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4922. en:sporadic occurrence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:sporadic occurrence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4923. en:sporadic occurrence is associated with advanced paternal age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:sporadic occurrence is associated with advanced paternal age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4924. en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4925. en:spots occur in 95% of patients but can be absent --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:spots occur in 95% of patients but can be absent | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4926. en:stable or slowly progressive course --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:stable or slowly progressive course | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4927. en:stage ii, rapid developmental regression (onset 1-4 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:stage ii, rapid developmental regression (onset 1-4 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4928. en:stage iii, pseudostationary period (onset 2-10 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:stage iii, pseudostationary period (onset 2-10 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4929. en:stage iv, late motor deterioration (when ambulation ceases) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:stage iv, late motor deterioration (when ambulation ceases) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4930. en:static or slowly progressive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:static or slowly progressive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4931. en:static, nonprogressive disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:static, nonprogressive disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4932. 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:incidence of 1 in 250,000 births
    n1=en:stickler syndrome (108300) and marshall syndrome share several characteristics such as midface hypoplasia, high myopia, and sensorineural hearing loss | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4933. en:stillbirth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:stillbirth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4934. en:stillborn or death in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:stillborn or death in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4935. en:stillborn or death shortly after birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:stillborn or death shortly after birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4936. en:stillborn or infantile death usual in prenatal form --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:stillborn or infantile death usual in prenatal form | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4937. en:stillborn or lethal in the neonatal period --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:stillborn or lethal in the neonatal period | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4938. en:striking intrafamilial variability --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:striking intrafamilial variability | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4939. en:subclavian artery supply disruption in embryogenesis has been suggested as etiology --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:subclavian artery supply disruption in embryogenesis has been suggested as etiology | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4940. en:subset of patients have cytochrome c oxidase deficiency (see 220110) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:subset of patients have cytochrome c oxidase deficiency (see 220110) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4941. en:subset of patients have french-canadian leigh syndrome (220111) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:subset of patients have french-canadian leigh syndrome (220111) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4942. en:subset of patients with sco2 (604272) mutations have cardioencephalomyopathy (604377) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:subset of patients with sco2 (604272) mutations have cardioencephalomyopathy (604377) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4943. en:subtle facial phenotype compared to other types of hpe --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:subtle facial phenotype compared to other types of hpe | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4944. en:subtle personality and behavioral changes are presenting signs --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:subtle personality and behavioral changes are presenting signs | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4945. en:subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4946. en:subtype 3c (231005) comprises cardiovascular calcifications --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:subtype 3c (231005) comprises cardiovascular calcifications | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4947. en:subtype of migraine with aura --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:subtype of migraine with aura | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4948. en:successful treatment with oral isotretinoin --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:successful treatment with oral isotretinoin | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4949. en:sudden cardiac death frequent in affected families --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:sudden cardiac death frequent in affected families | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4950. en:sudden cardiac death in some families --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:sudden cardiac death in some families | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4951. en:sudden death --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:sudden death | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4952. en:sudden death due to cardiac arrhythmia may occur --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:sudden death due to cardiac arrhythmia may occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4953. en:sudden death due to cardiomyopathy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:sudden death due to cardiomyopathy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4954. en:sudden death in affected females occurs in the forties --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:sudden death in affected females occurs in the forties | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4955. en:sudden death in affected males occurs in teens --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:sudden death in affected males occurs in teens | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4956. en:sudden death secondary to impaction of medulla oblongata --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:sudden death secondary to impaction of medulla oblongata | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4957. en:sudden infant death may occur --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:sudden infant death may occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4958. en:sudden infantile death may occur --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:sudden infantile death may occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4959. 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:incidence of 1 in 250,000 births
    n1=en:supervisor review:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4960. en:surgical intervention is not always curative --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:surgical intervention is not always curative | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4961. en:survival greater than one year rare --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:survival greater than one year rare | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4962. en:survival past infancy is rare --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:survival past infancy is rare | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4963. en:survival to 10 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:survival to 10 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4964. en:survival to 20 years in severe form --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:survival to 20 years in severe form | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4965. en:survival to 20s-60s in iib --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:survival to 20s-60s in iib | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4966. en:survival to 5-15 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:survival to 5-15 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4967. en:survival to advanced age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:survival to advanced age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4968. en:surviving infants develop severe nonbullous ichthyosiform erythroderma --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:surviving infants develop severe nonbullous ichthyosiform erythroderma | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4969. en:survivors develop dysautonomia-like symptoms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:survivors develop dysautonomia-like symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4970. en:survivors have mental retardation, spasticity, and adducted thumbs (masa syndrome findings (303350)) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:survivors have mental retardation, spasticity, and adducted thumbs (masa syndrome findings (303350)) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4971. en:survivors may develop renal insufficiency and hepatic dysfunction --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:survivors may develop renal insufficiency and hepatic dysfunction | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4972. en:susceptibility to infections start in the first year of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:susceptibility to infections start in the first year of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4973. en:susceptibility to infections starts in the first week of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:susceptibility to infections starts in the first week of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4974. en:swelling starts to fade by age 30 years and gradually becomes unremarkable --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:swelling starts to fade by age 30 years and gradually becomes unremarkable | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4975. en:symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele (182940) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele (182940) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4976. en:symptom onset ranges from infancy to adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptom onset ranges from infancy to adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4977. en:symptomatic if > 200 repeats --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptomatic if > 200 repeats | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4978. en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4979. en:symptoms ameliorate with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms ameliorate with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4980. en:symptoms are aggravated by febrile illness --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms are aggravated by febrile illness | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4981. en:symptoms are not apparent at rest --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms are not apparent at rest | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4982. en:symptoms are often responsive to alcohol --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms are often responsive to alcohol | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4983. en:symptoms are responsive to cobalamin treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms are responsive to cobalamin treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4984. en:symptoms begin focally, later segmental or generalized --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms begin focally, later segmental or generalized | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4985. en:symptoms benefit from sleep --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms benefit from sleep | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4986. en:symptoms can be prevented by strict dietary restriction --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms can be prevented by strict dietary restriction | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4987. en:symptoms develop immediately after birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms develop immediately after birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4988. en:symptoms highly variable - rapidly progressive course leading to hepatic failure versus acute hepatic crisis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms highly variable - rapidly progressive course leading to hepatic failure versus acute hepatic crisis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4989. en:symptoms improve during the summer --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms improve during the summer | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4990. en:symptoms improve following sleep --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms improve following sleep | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4991. en:symptoms induced by strenuous exercise --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms induced by strenuous exercise | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4992. en:symptoms may be aggravated by acute illness --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms may be aggravated by acute illness | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4993. en:symptoms may be exacerbated by pregnancy or trauma --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms may be exacerbated by pregnancy or trauma | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4994. en:symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see 614972) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see 614972) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4995. en:symptoms may be precipitated by infection --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms may be precipitated by infection | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4996. en:symptoms may decrease after age 30 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms may decrease after age 30 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4997. en:symptoms must occur for 6 months including 1 month of characteristic symptoms (e.g. delusions) to make diagnosis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms must occur for 6 months including 1 month of characteristic symptoms (e.g. delusions) to make diagnosis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4998. en:symptoms noted at 2-3 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms noted at 2-3 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  4999. en:symptoms occur only during pregnancy (usual onset after 6 weeks gestation) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms occur only during pregnancy (usual onset after 6 weeks gestation) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5000. en:symptoms occur only during sleep --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms occur only during sleep | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5001. en:symptoms of zinc deficiency occur only in exclusively breastfed infants --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms of zinc deficiency occur only in exclusively breastfed infants | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5002. en:symptoms often decrease or remit with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms often decrease or remit with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5003. en:symptoms often improve gradually with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms often improve gradually with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5004. en:symptoms precipitated by exercise and excitement --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms precipitated by exercise and excitement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5005. en:symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5006. en:symptoms precipitated by sudden movement, stress, exertion, fatigue --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms precipitated by sudden movement, stress, exertion, fatigue | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5007. en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5008. en:symptoms precipitated by sudden movement, stress, exertion, fatigue, illness --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms precipitated by sudden movement, stress, exertion, fatigue, illness | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5009. en:symptoms precipitated by sudden movements --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms precipitated by sudden movements | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5010. en:symptoms progress with worsening myopathy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms progress with worsening myopathy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5011. en:symptoms relieved by ovarian suppression --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms relieved by ovarian suppression | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5012. en:symptoms relieved by progesterone antagonist (in some patients) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms relieved by progesterone antagonist (in some patients) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5013. en:symptoms relieved by serotonin antagonist (in some patients) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms relieved by serotonin antagonist (in some patients) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5014. en:symptoms remain focal --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms remain focal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5015. en:symptoms resolve over weeks to months with usually no residual symptoms between attacks --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms resolve over weeks to months with usually no residual symptoms between attacks | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5016. en:symptoms show insidious onset in the late first through third decades --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms show insidious onset in the late first through third decades | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5017. en:symptoms tend to improve with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms tend to improve with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5018. en:symptoms typically begin in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms typically begin in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5019. en:symptoms usually appear in adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms usually appear in adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5020. en:symptoms usually induced only by strenuous exercise --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms usually induced only by strenuous exercise | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5021. en:symptoms usually last 30-60 minutes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms usually last 30-60 minutes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5022. en:symptoms usually manifest in childhood including waddling gait and painful, stiff joints --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms usually manifest in childhood including waddling gait and painful, stiff joints | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5023. en:symptoms usually occur in adults --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms usually occur in adults | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5024. en:symptoms usually resolve without treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms usually resolve without treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5025. en:symptoms vary according to location of tumor --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms vary according to location of tumor | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5026. en:symptoms vary from asymptomatic patients to patients with metabolic acidosis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms vary from asymptomatic patients to patients with metabolic acidosis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5027. en:symptoms worsen with fatigue and exercise --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:symptoms worsen with fatigue and exercise | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5028. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5029. en:systemic amyloid deposition may occur --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:systemic amyloid deposition may occur | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5030. en:systemic granulomatous disease --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:systemic granulomatous disease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5031. en:systemic iron overload due to ineffective erythropoiesis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:systemic iron overload due to ineffective erythropoiesis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5032. en:t-cell lymphopenia is more severe early in life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:t-cell lymphopenia is more severe early in life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5033. en:teeth may undergo post-eruptive changes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:teeth may undergo post-eruptive changes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5034. en:telangiectases persist in adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:telangiectases persist in adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5035. en:telangiectasia become evident between the second and eighth year of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:telangiectasia become evident between the second and eighth year of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5036. en:temperature instability --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:temperature instability | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5037. en:tendency to lighter pigmentation than unaffected relatives --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:tendency to lighter pigmentation than unaffected relatives | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5038. en:the acronym midas is microphthalmia, dermal aplasia, sclerocornea --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:the acronym midas is microphthalmia, dermal aplasia, sclerocornea | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5039. en:the characteristic changes in the spine resolve by adolescence --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:the characteristic changes in the spine resolve by adolescence | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5040. en:the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5041. en:the frequency is estimated at 1/20,000 to 1/50,000 births --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:the frequency is estimated at 1/20,000 to 1/50,000 births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5042. en:the lower the s-ado:saicr ratio, the more severe the phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:the lower the s-ado:saicr ratio, the more severe the phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5043. en:the majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:the majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5044. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5045. en:the most studied group is efe pygmies from ituri forest in northeast zaire --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:the most studied group is efe pygmies from ituri forest in northeast zaire | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5046. en:the mttl1 c.3243a-g transition (590050.0001) is the most common mutation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:the mttl1 c.3243a-g transition (590050.0001) is the most common mutation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5047. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5048. en:therapy-induced dyskinesias --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:therapy-induced dyskinesias | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5049. en:there are several subtypes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:there are several subtypes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5050. en:thiamine supplementation may be beneficial --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:thiamine supplementation may be beneficial | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5051. en:thin, fine hair described in few individuals --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:thin, fine hair described in few individuals | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5052. en:this patient died at age 2 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:this patient died at age 2 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5053. en:this patient died at age 8 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:this patient died at age 8 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5054. en:this specific disorder has been described in 1 family (ke) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:this specific disorder has been described in 1 family (ke) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5055. en:thoracic abnormalities tend to improve with age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:thoracic abnormalities tend to improve with age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5056. en:thorax anomaly ameliorates with age (in some patients) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:thorax anomaly ameliorates with age (in some patients) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5057. en:those who survive initial acute episode have no recurrence of hepatic involvement, but may have persistent hypotonia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:those who survive initial acute episode have no recurrence of hepatic involvement, but may have persistent hypotonia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5058. en:those with intermediate repeat expansions show reduced penetrance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:those with intermediate repeat expansions show reduced penetrance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5059. en:those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5060. en:three affected sibs have been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three affected sibs have been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5061. en:three amish patients have been reported (as of february 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three amish patients have been reported (as of february 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5062. en:three distinct clinical forms - endemic (equatorial africa), sporadic, and immunodeficiency-associated (e.g., hiv infection) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three distinct clinical forms - endemic (equatorial africa), sporadic, and immunodeficiency-associated (e.g., hiv infection) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5063. en:three families described (last curated january 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three families described (last curated january 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5064. en:three families have been reported (as of 28 june 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three families have been reported (as of 28 june 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5065. en:three families have been reported (as of december 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three families have been reported (as of december 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5066. en:three families have been reported (as of september 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three families have been reported (as of september 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5067. en:three families have been reported (last curated april 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three families have been reported (last curated april 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5068. en:three families have been reported (last curated august 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three families have been reported (last curated august 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5069. en:three families have been reported (last curated july 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three families have been reported (last curated july 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5070. en:three families have been reported (last curated november 2010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three families have been reported (last curated november 2010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5071. en:three families have been reported (last curated november 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three families have been reported (last curated november 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5072. en:three forms of cjd: acquired (including variant), sporadic, and inherited --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three forms of cjd: acquired (including variant), sporadic, and inherited | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5073. en:three girls from 2 unrelated families have been reported (last curated june 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three girls from 2 unrelated families have been reported (last curated june 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5074. en:three main clinical forms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three main clinical forms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5075. en:three main phenotypes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three main phenotypes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5076. en:three major clinical forms are apparent --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three major clinical forms are apparent | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5077. en:three males in 1 family have been reported (last curated august 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three males in 1 family have been reported (last curated august 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5078. en:three patients (2 related) reported (last curated march 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three patients (2 related) reported (last curated march 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5079. en:three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5080. en:three patients from 1 french canadian family have been reported (last curated november 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three patients from 1 french canadian family have been reported (last curated november 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5081. en:three patients from 1 mexican family has been reported (last curated april 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three patients from 1 mexican family has been reported (last curated april 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5082. en:three patients from 2 families have been reported (last curated december 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three patients from 2 families have been reported (last curated december 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5083. en:three patients have been described (last curated january 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three patients have been described (last curated january 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5084. en:three patients have been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three patients have been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5085. en:three patients have been reported (as of august 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three patients have been reported (as of august 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5086. en:three patients have been reported (as of february 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three patients have been reported (as of february 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5087. en:three patients have been reported (as of november 2010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three patients have been reported (as of november 2010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5088. en:three patients have been reported (as of october 2009) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three patients have been reported (as of october 2009) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5089. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5090. en:three patients reported, one with a wdpcp mutation (last curated january 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three patients reported, one with a wdpcp mutation (last curated january 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5091. en:three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5092. en:three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5093. en:three times more common in males --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three times more common in males | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5094. en:three type of cystinosis are recognized - infantile nephropathic (219800), juvenile or adolescent nephropathic (219900), and adult nonnephropathic (219750) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three type of cystinosis are recognized - infantile nephropathic (219800), juvenile or adolescent nephropathic (219900), and adult nonnephropathic (219750) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5095. en:three types of cystinosis are recognized --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three types of cystinosis are recognized | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5096. 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:incidence of 1 in 250,000 births
    n1=en:three types of pct: type i (176090) sporadic, presents in adults: types ii and iii (176100) familial, presents in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5097. en:three unrelated boys have been reported (as of july 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three unrelated boys have been reported (as of july 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5098. en:three unrelated caucasian patients have been reported (as of january 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three unrelated caucasian patients have been reported (as of january 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5099. en:three unrelated families have been reported (as of june 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three unrelated families have been reported (as of june 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5100. en:three unrelated families have been reported (last curated february 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three unrelated families have been reported (last curated february 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5101. en:three unrelated families have been reported (last curated january 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three unrelated families have been reported (last curated january 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5102. en:three unrelated families have been reported (last curated june 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three unrelated families have been reported (last curated june 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5103. en:three unrelated families have been reported (last curated november 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three unrelated families have been reported (last curated november 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5104. en:three unrelated families have been reported (last curated october 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three unrelated families have been reported (last curated october 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5105. en:three unrelated girls have been reported (as of july 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three unrelated girls have been reported (as of july 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5106. en:three unrelated patients have been reported (last curated april 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three unrelated patients have been reported (last curated april 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5107. en:three unrelated patients have been reported (last curated january 2010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three unrelated patients have been reported (last curated january 2010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5108. en:three unrelated patients have been reported (last curated july 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three unrelated patients have been reported (last curated july 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5109. en:three unrelated patients have been reported (last curated july 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three unrelated patients have been reported (last curated july 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5110. en:three unrelated patients have been reported (last curated september 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three unrelated patients have been reported (last curated september 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5111. en:three unrelated patients have been reported (last curated september 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three unrelated patients have been reported (last curated september 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5112. en:three unrelated turkish families have been reported (last curated september 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three unrelated turkish families have been reported (last curated september 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5113. en:three variants distinguished by age of onset - infantile ( onset before age 2), juvenile (onset in childhood), and adult --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:three variants distinguished by age of onset - infantile ( onset before age 2), juvenile (onset in childhood), and adult | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5114. en:thromboembolism is the most common cause of death --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:thromboembolism is the most common cause of death | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5115. en:thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5116. en:thyroid gland carcinoma --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:thyroid gland carcinoma | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5117. en:time of analysis:tmstp:pt:xxx:qn --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:time of analysis:tmstp:pt:xxx:qn | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5118. en:tooth agenesis ranges from 1 missing tooth to marked oligodontia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:tooth agenesis ranges from 1 missing tooth to marked oligodontia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5119. en:torso and upper body remain normal in shape and contour --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:torso and upper body remain normal in shape and contour | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5120. 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:incidence of 1 in 250,000 births
    n1=en:toxicologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5121. en:transfusion of plasma, which has apoc-ii, causes decrease in plasma triglycerides --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:transfusion of plasma, which has apoc-ii, causes decrease in plasma triglycerides | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5122. en:trauma may accelerate symptoms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:trauma may accelerate symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5123. en:trauma, anxiety, and/or stress can precipitate or aggravate edema --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:trauma, anxiety, and/or stress can precipitate or aggravate edema | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5124. en:trauma, im injection, surgery can be foci of ectopic ossification --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:trauma, im injection, surgery can be foci of ectopic ossification | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5125. en:treatment with betaine, especially for pyridoxine nonresponders --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:treatment with betaine, especially for pyridoxine nonresponders | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5126. en:treatment with bh4 is effective --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:treatment with bh4 is effective | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5127. en:treatment with dichloroacetate (dca) prolongs survival --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:treatment with dichloroacetate (dca) prolongs survival | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5128. en:treatment with enzyme replacement therapy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:treatment with enzyme replacement therapy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5129. en:treatment with folinic acid offers some benefit for anemia and seizure control --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:treatment with folinic acid offers some benefit for anemia and seizure control | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5130. en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5131. en:treatment with levodopa is not effective --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:treatment with levodopa is not effective | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5132. en:treatment with oral coenzyme q may ameliorate symptoms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:treatment with oral coenzyme q may ameliorate symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5133. en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5134. en:treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5135. en:treatment with serine and glycine replacement may alleviate features if started at birth --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:treatment with serine and glycine replacement may alleviate features if started at birth | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5136. en:treatment with vitamin d and phosphate is effective --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:treatment with vitamin d and phosphate is effective | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5137. en:tremor is aggravated by emotional stress --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:tremor is aggravated by emotional stress | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5138. en:tremor is aggravated by low glucose or light --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:tremor is aggravated by low glucose or light | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5139. en:tremor may be elicited by movement or postural maintenance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:tremor may be elicited by movement or postural maintenance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5140. en:tremors develop after seizures --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:tremors develop after seizures | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5141. en:triggered by exercise, fasting, or other metabolic stresses --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:triggered by exercise, fasting, or other metabolic stresses | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5142. en:triggered by minor head trauma --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:triggered by minor head trauma | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5143. en:triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5144. en:triggered by use of antibiotics (24% of cases) and nonsteroidal antiinflammatory drugs (18% of cases) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:triggered by use of antibiotics (24% of cases) and nonsteroidal antiinflammatory drugs (18% of cases) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5145. en:triggers are variable, even within a family --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:triggers are variable, even within a family | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5146. 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:incidence of 1 in 250,000 births
    n1=en:trp2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both the trps1 (604386) and ext1 (608177) genes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5147. 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:incidence of 1 in 250,000 births
    n1=en:trps2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both trps1 (190350) and ext1 (608177) genes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5148. en:truncating mutations in crebbp found in 10% of patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:truncating mutations in crebbp found in 10% of patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5149. en:tumor predisposition syndrome --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:tumor predisposition syndrome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5150. en:tumors are microsatellite stable --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:tumors are microsatellite stable | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5151. en:tumors may show spontaneous regression --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:tumors may show spontaneous regression | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5152. en:tumors usually develop between 40 and 60 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:tumors usually develop between 40 and 60 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5153. en:twelve or more lesions per eye in individuals over 60 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:twelve or more lesions per eye in individuals over 60 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5154. en:two affected sibs have been reported (last curated july 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two affected sibs have been reported (last curated july 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5155. en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5156. en:two arab muslim families have been reported (last curated october 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two arab muslim families have been reported (last curated october 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5157. en:two autosomal dominant families have been reported (as of may 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two autosomal dominant families have been reported (as of may 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5158. en:two brothers have been reported (as of february 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two brothers have been reported (as of february 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5159. en:two brothers have been reported (last curated august 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two brothers have been reported (last curated august 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5160. en:two chinese sisters and one chinese woman have been described (last curated april 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two chinese sisters and one chinese woman have been described (last curated april 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5161. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5162. en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5163. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5164. en:two consanguineous turkish families have been reported (as of august 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two consanguineous turkish families have been reported (as of august 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5165. en:two consanguineous turkish families have been reported (last curated january 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two consanguineous turkish families have been reported (last curated january 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5166. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5167. en:two families described (last curated july 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two families described (last curated july 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5168. en:two families described (last curated november 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two families described (last curated november 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5169. en:two families have been reported (as of 6/2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two families have been reported (as of 6/2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5170. en:two families have been reported (as of curation date april 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two families have been reported (as of curation date april 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5171. en:two families have been reported (as of june 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two families have been reported (as of june 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5172. en:two families have been reported (as of march 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two families have been reported (as of march 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5173. en:two families have been reported (as of may 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two families have been reported (as of may 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5174. en:two families have been reported (as of may 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two families have been reported (as of may 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5175. en:two families have been reported (as of september 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two families have been reported (as of september 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5176. en:two families have been reported (last curated april 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two families have been reported (last curated april 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5177. en:two families have been reported (last curated december 2010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two families have been reported (last curated december 2010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5178. en:two families have been reported (last curated december 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two families have been reported (last curated december 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5179. en:two families have been reported (last curated december 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two families have been reported (last curated december 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5180. en:two families have been reported (last curated february 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two families have been reported (last curated february 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5181. en:two families have been reported (last curated january 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two families have been reported (last curated january 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5182. en:two families have been reported (september 2010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two families have been reported (september 2010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5183. en:two families of canadian origin have been reported (last curated may 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two families of canadian origin have been reported (last curated may 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5184. en:two families of french-canadian origin have been reported (last curated december 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two families of french-canadian origin have been reported (last curated december 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5185. en:two families reported (last curated august 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two families reported (last curated august 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5186. en:two families reported (last curated february 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two families reported (last curated february 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5187. en:two families reported (last curated september 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two families reported (last curated september 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5188. en:two families reported with 2 sibs each (last curated october 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two families reported with 2 sibs each (last curated october 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5189. en:two families with different phenotypes have been reported (as of september 2010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two families with different phenotypes have been reported (as of september 2010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5190. en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5191. en:two fetuses have been reported (as of august 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two fetuses have been reported (as of august 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5192. en:two forms: iia (severe) and iib (mild) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two forms: iia (severe) and iib (mild) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5193. en:two japanese brothers have been reported (as of september 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two japanese brothers have been reported (as of september 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5194. en:two japanese families have been reported (as of february 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two japanese families have been reported (as of february 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5195. en:two japanese patients have been reported (last curated march 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two japanese patients have been reported (last curated march 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5196. en:two jordanian sibs have been reported (last curated november 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two jordanian sibs have been reported (last curated november 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5197. en:two loci control synthesis of c4, c4a (120810) and c4b (120820) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two loci control synthesis of c4, c4a (120810) and c4b (120820) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5198. en:two loci described - eec1 (129900) and eec3 (604292) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two loci described - eec1 (129900) and eec3 (604292) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5199. en:two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5200. en:two main phenotypes, early-onset with neurologic defects and early-adult onset with gout --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two main phenotypes, early-onset with neurologic defects and early-adult onset with gout | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5201. en:two main phenotypes, metabolic and neurologic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two main phenotypes, metabolic and neurologic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5202. en:two main phenotypes, severe and mild --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two main phenotypes, severe and mild | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5203. en:two main presentations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two main presentations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5204. en:two of 3 patients became wheelchair-bound --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two of 3 patients became wheelchair-bound | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5205. en:two of 6 patients became wheelchair-bound by age 20 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two of 6 patients became wheelchair-bound by age 20 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5206. en:two pairs of sisters described from two canadian dariusleut hutterite families (last curated september 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two pairs of sisters described from two canadian dariusleut hutterite families (last curated september 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5207. en:two pakistani families have been reported (last curated december 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two pakistani families have been reported (last curated december 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5208. en:two pakistani families reported (last curated july 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two pakistani families reported (last curated july 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5209. en:two pakistani families with a homozygous crybb3 mutation have been reported (last curated august 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two pakistani families with a homozygous crybb3 mutation have been reported (last curated august 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5210. en:two patients from 1 italian family have been reported (as of april 2010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two patients from 1 italian family have been reported (as of april 2010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5211. en:two patients from spain have been reported (as of january 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two patients from spain have been reported (as of january 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5212. en:two patients have been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two patients have been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5213. en:two patients have been reported (as of august 2010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two patients have been reported (as of august 2010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5214. en:two patients have been reported (as of august 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two patients have been reported (as of august 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5215. en:two patients in one ashkenzai jewish family described (last curated june 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two patients in one ashkenzai jewish family described (last curated june 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5216. en:two patients reported (last curated may 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two patients reported (last curated may 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5217. en:two patients required liver transplantation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two patients required liver transplantation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5218. en:two patients with a wws phenotype have been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two patients with a wws phenotype have been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5219. 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:incidence of 1 in 250,000 births
    n1=en:two patients with heterozygous prickle1 mutations and limited clinical and familial details have been reported (last curated january 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5220. en:two patients with point mutations in rad21 have been reported (last curated july 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two patients with point mutations in rad21 have been reported (last curated july 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5221. en:two patients without cardiomyopathy or cataracts have been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two patients without cardiomyopathy or cataracts have been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5222. en:two peaks of onset, childhood and adult --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two peaks of onset, childhood and adult | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5223. en:two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5224. en:two probands have been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two probands have been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5225. en:two related patients have been reported (as of november 2010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two related patients have been reported (as of november 2010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5226. en:two sibs born of consanguineous moroccan parents have been reported (last curated may 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two sibs born of consanguineous moroccan parents have been reported (last curated may 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5227. en:two sibs died before 2 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two sibs died before 2 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5228. en:two sibs have been reported (as of august 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two sibs have been reported (as of august 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5229. en:two sibs have been reported (last curated july 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two sibs have been reported (last curated july 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5230. en:two sibs have been reported (last curated may 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two sibs have been reported (last curated may 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5231. en:two sibs have been reported (last curated november 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two sibs have been reported (last curated november 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5232. en:two sibs have been reported (last curated october 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two sibs have been reported (last curated october 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5233. en:two sibs, a boy and a girl, have been reported (as of july 2009) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two sibs, a boy and a girl, have been reported (as of july 2009) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5234. en:two sisters have been reported (last curated february 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two sisters have been reported (last curated february 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5235. en:two sisters have been reported (last curated september 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two sisters have been reported (last curated september 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5236. en:two sisters, born of consanguineous moroccan parents, have been reported (last curated october 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two sisters, born of consanguineous moroccan parents, have been reported (last curated october 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5237. en:two subtypes - seminoma and nonseminoma --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two subtypes - seminoma and nonseminoma | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5238. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5239. en:two subtypes noninflammatory type a and inflammatory type b --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two subtypes noninflammatory type a and inflammatory type b | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5240. en:two subtypes, episodic (85% of patients) and chronic (15%) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two subtypes, episodic (85% of patients) and chronic (15%) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5241. en:two thirds of patients are female --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two thirds of patients are female | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5242. en:two types - lethal neonatal and less severe, late onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two types - lethal neonatal and less severe, late onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5243. en:two types - one with premature ovarian failure (bpes type 1) and one without pof (bpes type 2) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two types - one with premature ovarian failure (bpes type 1) and one without pof (bpes type 2) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5244. en:two types - severe infantile form (type i) and milder form (type ii) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two types - severe infantile form (type i) and milder form (type ii) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5245. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5246. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5247. en:two unrelated boys reported with relatively mild phenotype (last curated may 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated boys reported with relatively mild phenotype (last curated may 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5248. en:two unrelated chinese families have been reported (last curated february 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated chinese families have been reported (last curated february 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5249. en:two unrelated chinese families have been reported (last curated november 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated chinese families have been reported (last curated november 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5250. en:two unrelated consanguineous families have been reported (last curated january 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated consanguineous families have been reported (last curated january 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5251. en:two unrelated families and 1 isolated patient have been reported (last curated june 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated families and 1 isolated patient have been reported (last curated june 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5252. en:two unrelated families have been reported (as of july 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated families have been reported (as of july 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5253. en:two unrelated families have been reported (as of october 2010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated families have been reported (as of october 2010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5254. en:two unrelated families have been reported (last curated april 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated families have been reported (last curated april 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5255. en:two unrelated families have been reported (last curated august 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated families have been reported (last curated august 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5256. en:two unrelated families have been reported (last curated august 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated families have been reported (last curated august 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5257. en:two unrelated families have been reported (last curated december 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated families have been reported (last curated december 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5258. en:two unrelated families have been reported (last curated february 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated families have been reported (last curated february 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5259. en:two unrelated families have been reported (last curated february 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated families have been reported (last curated february 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5260. en:two unrelated families have been reported (last curated january 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated families have been reported (last curated january 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5261. en:two unrelated families have been reported (last curated july 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated families have been reported (last curated july 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5262. en:two unrelated families have been reported (last curated july 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated families have been reported (last curated july 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5263. en:two unrelated families have been reported (last curated june 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated families have been reported (last curated june 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5264. en:two unrelated families have been reported (last curated june 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated families have been reported (last curated june 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5265. en:two unrelated families have been reported (last curated may 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated families have been reported (last curated may 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5266. en:two unrelated families have been reported (last curated november 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated families have been reported (last curated november 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5267. en:two unrelated families have been reported (last curated november 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated families have been reported (last curated november 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5268. en:two unrelated families have been reported (last curated october 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated families have been reported (last curated october 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5269. en:two unrelated families have been reported (last curated september 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated families have been reported (last curated september 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5270. en:two unrelated families have been reported (last curated september 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated families have been reported (last curated september 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5271. en:two unrelated families have been reported (last curated september 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated families have been reported (last curated september 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5272. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5273. 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:incidence of 1 in 250,000 births
    n1=en:two unrelated families, one north african descent and one of italian descent, have been reported (last curated august 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5274. en:two unrelated girls reported (last curated october 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated girls reported (last curated october 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5275. en:two unrelated individuals have been reported (last curated january 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated individuals have been reported (last curated january 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5276. en:two unrelated japanese families have been reported (last curated september 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated japanese families have been reported (last curated september 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5277. en:two unrelated japanese patients have been reported (last curated may 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated japanese patients have been reported (last curated may 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5278. en:two unrelated patients have been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients have been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5279. en:two unrelated patients have been reported (as of august 2010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients have been reported (as of august 2010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5280. en:two unrelated patients have been reported (as of january 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients have been reported (as of january 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5281. en:two unrelated patients have been reported (as of june 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients have been reported (as of june 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5282. en:two unrelated patients have been reported (as of may 2011) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients have been reported (as of may 2011) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5283. en:two unrelated patients have been reported (last curated april 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients have been reported (last curated april 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5284. en:two unrelated patients have been reported (last curated april 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients have been reported (last curated april 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5285. en:two unrelated patients have been reported (last curated august 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients have been reported (last curated august 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5286. en:two unrelated patients have been reported (last curated december 2010) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients have been reported (last curated december 2010) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5287. en:two unrelated patients have been reported (last curated december 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients have been reported (last curated december 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5288. en:two unrelated patients have been reported (last curated december 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients have been reported (last curated december 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5289. en:two unrelated patients have been reported (last curated february 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients have been reported (last curated february 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5290. en:two unrelated patients have been reported (last curated january 2015) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients have been reported (last curated january 2015) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5291. en:two unrelated patients have been reported (last curated july 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients have been reported (last curated july 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5292. en:two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5293. en:two unrelated patients have been reported (last curated june 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients have been reported (last curated june 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5294. en:two unrelated patients have been reported (last curated june 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients have been reported (last curated june 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5295. en:two unrelated patients have been reported (last curated march 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients have been reported (last curated march 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5296. en:two unrelated patients have been reported (last curated october 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients have been reported (last curated october 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5297. en:two unrelated patients have been reported (last curated october 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients have been reported (last curated october 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5298. en:two unrelated patients have been reported (last curated september 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients have been reported (last curated september 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5299. en:two unrelated patients have been reported (last curated september 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients have been reported (last curated september 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5300. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5301. 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:incidence of 1 in 250,000 births
    n1=en:two unrelated patients have been reported, but nadk2 mutation has only been confirmed in 1 patient (last curated september 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5302. en:two unrelated patients reported (last curated september 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients reported (last curated september 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5303. en:two unrelated patients with confirmed mutations have been reported (as of january 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients with confirmed mutations have been reported (as of january 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5304. en:two unrelated patients with de novo mutations have been reported (last curated november 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients with de novo mutations have been reported (last curated november 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5305. en:two unrelated patients with different phenotypes have been reported (as of march 2012) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients with different phenotypes have been reported (as of march 2012) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5306. en:two unrelated patients with epileptic encephalopathy have been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients with epileptic encephalopathy have been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5307. en:two unrelated patients with pathogenic csf2rb mutations have been reported (last curated december 2014) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients with pathogenic csf2rb mutations have been reported (last curated december 2014) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5308. en:two unrelated patients with slightly different phenotypes have been reported (last curated august 2013) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two unrelated patients with slightly different phenotypes have been reported (last curated august 2013) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5309. en:two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5310. en:type 1 - associated with osteogenesis imperfecta (125490) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:type 1 - associated with osteogenesis imperfecta (125490) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5311. en:type 1 porencephaly is usually unilateral and results from destructive lesions --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:type 1 porencephaly is usually unilateral and results from destructive lesions | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5312. en:type 2 - hereditary opalescent dentin, not associated with bone defect (125490) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:type 2 - hereditary opalescent dentin, not associated with bone defect (125490) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5313. en:type 2 porencephaly is usually symmetrical and results from developmental malformation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:type 2 porencephaly is usually symmetrical and results from developmental malformation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5314. en:type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5315. en:type 2a is characterized by deficiency of high molecular weight monomers --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:type 2a is characterized by deficiency of high molecular weight monomers | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5316. en:type 2b is characterized by increased affinity for platelet glycoprotein 1b --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:type 2b is characterized by increased affinity for platelet glycoprotein 1b | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5317. en:type 2cb is characterized by defective binding affinity for collagen types i and iii --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:type 2cb is characterized by defective binding affinity for collagen types i and iii | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5318. en:type 2m is characterized by decreased platelet adhesion in the presence of high molecular weight monomers --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:type 2m is characterized by decreased platelet adhesion in the presence of high molecular weight monomers | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5319. en:type 2n is characterized by decreased binding affinity for factor viii --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:type 2n is characterized by decreased binding affinity for factor viii | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5320. en:type 2n shows autosomal recessive inheritance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:type 2n shows autosomal recessive inheritance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5321. en:type 3 - brandywine isolate opalescent dentin (125500) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:type 3 - brandywine isolate opalescent dentin (125500) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5322. en:type 3: craniosynostosis, early demise, sporadic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:type 3: craniosynostosis, early demise, sporadic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5323. en:type a characterized by progressive myoclonic epilepsy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:type a characterized by progressive myoclonic epilepsy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5324. en:type b characterized by dementia, motor disturbances, and facial dyskinesia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:type b characterized by dementia, motor disturbances, and facial dyskinesia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5325. en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5326. en:type i has most severe manifestations by age 4-5 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:type i has most severe manifestations by age 4-5 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5327. en:type i is infantile-onset, severe --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:type i is infantile-onset, severe | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5328. en:type i onset at 8 to 15 months of age after normal development --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:type i onset at 8 to 15 months of age after normal development | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5329. en:type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5330. en:type i sialidosis (cherry-red spot/myoclonus syndrome ) - mild disease, no dysmorphic features, onset in second decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:type i sialidosis (cherry-red spot/myoclonus syndrome ) - mild disease, no dysmorphic features, onset in second decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5331. en:type ii is adult-onset (kanzaki disease, 609242) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:type ii is adult-onset (kanzaki disease, 609242) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5332. en:type ii is progressive and leads to shortened lifespan --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:type ii is progressive and leads to shortened lifespan | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5333. en:type ii patients are usually japanese and have significant aprt activity (10-25%) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:type ii patients are usually japanese and have significant aprt activity (10-25%) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5334. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5335. en:type iia tends to have more severe phenotype with earlier onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:type iia tends to have more severe phenotype with earlier onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5336. en:type iii is intermediate form --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:type iii is intermediate form | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5337. en:type iiia has both liver and muscle involvement --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:type iiia has both liver and muscle involvement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5338. en:type iiib liver involvement only (15% of all cases) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:type iiib liver involvement only (15% of all cases) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5339. en:types of psoriasis include - plaque, guttate, erythrodermic, pustular --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:types of psoriasis include - plaque, guttate, erythrodermic, pustular | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5340. en:typical attacks last from seconds to minutes, but longer occurrences have been reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:typical attacks last from seconds to minutes, but longer occurrences have been reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5341. en:typical onset in adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:typical onset in adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5342. en:typically no physical features of albright hereditary osteodystrophy (aho) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:typically no physical features of albright hereditary osteodystrophy (aho) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5343. en:u.s. frequency higher in blacks than whites --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:u.s. frequency higher in blacks than whites | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5344. en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5345. en:ullrich congenital muscular dystrophy (254090) is an allelic disorder with autosomal recessive inheritance and a more severe phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:ullrich congenital muscular dystrophy (254090) is an allelic disorder with autosomal recessive inheritance and a more severe phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5346. en:ultrarapid metabolizers have multiple copies of the cyp2d6 gene (124030.0007) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:ultrarapid metabolizers have multiple copies of the cyp2d6 gene (124030.0007) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5347. en:ultrasound detection in second trimester of pregnancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:ultrasound detection in second trimester of pregnancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5348. en:unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5349. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5350. en:uncommon and rare features seen in the most severely affected patients --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:uncommon and rare features seen in the most severely affected patients | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5351. en:uncommon disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:uncommon disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5352. en:uniparental disomy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:uniparental disomy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5353. en:unusual cabbage-like odor --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:unusual cabbage-like odor | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5354. en:unusual skill with jigsaw puzzle --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:unusual skill with jigsaw puzzle | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5355. en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5356. en:up to 50% of patients may have various additional congenital anomalies --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:up to 50% of patients may have various additional congenital anomalies | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5357. en:up to 60% of female mutation carriers develop lobular breast cancer --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:up to 60% of female mutation carriers develop lobular breast cancer | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5358. en:upper limb involvement in first decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:upper limb involvement in first decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5359. en:upper limb involvement may occur later --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:upper limb involvement may occur later | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5360. en:upper limb involvement occur later --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:upper limb involvement occur later | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5361. en:upper limb involvement usually occurs later --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:upper limb involvement usually occurs later | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5362. en:upper urinary tract usually normal --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:upper urinary tract usually normal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5363. 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:incidence of 1 in 250,000 births
    n1=en:urinalysis specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5364. en:urine turns dark on standing and alkalinization --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:urine turns dark on standing and alkalinization | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5365. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5366. en:ush3 cases account for 40% of all usher patients in finland --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:ush3 cases account for 40% of all usher patients in finland | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5367. en:usher syndrome type i (congenital profound deafness, absent vestibular function, and prepubertal onset of retinitis pigmentosa) - 7 loci --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usher syndrome type i (congenital profound deafness, absent vestibular function, and prepubertal onset of retinitis pigmentosa) - 7 loci | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5368. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5369. en:usual age of onset in the 20s and 30s --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usual age of onset in the 20s and 30s | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5370. en:usual onset before age 6 years and death by age 20 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usual onset before age 6 years and death by age 20 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5371. en:usual onset under age 30 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usual onset under age 30 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5372. en:usually a manifestation of the carney complex (cnc1, 1609890) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually a manifestation of the carney complex (cnc1, 1609890) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5373. en:usually a sporadic disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually a sporadic disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5374. en:usually adult onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually adult onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5375. en:usually affects children --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually affects children | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5376. en:usually asymptomatic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually asymptomatic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5377. en:usually begins in feet and legs (peroneal distribution) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually begins in feet and legs (peroneal distribution) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5378. en:usually begins in feet and legs (peroneal distribution), but may progress to upper limbs --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually begins in feet and legs (peroneal distribution), but may progress to upper limbs | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5379. en:usually clinically asymptomatic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually clinically asymptomatic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5380. en:usually death in utero or rarely in neonatal period --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually death in utero or rarely in neonatal period | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5381. en:usually fatal --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually fatal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5382. en:usually fatal by age 5 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually fatal by age 5 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5383. en:usually fatal in first 2 decades --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually fatal in first 2 decades | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5384. en:usually fatal in infancy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually fatal in infancy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5385. en:usually fatal within the first few weeks of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually fatal within the first few weeks of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5386. en:usually favorable response to treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually favorable response to treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5387. en:usually follows a static course or is slowly progressive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually follows a static course or is slowly progressive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5388. en:usually lethal in the neonatal period --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually lethal in the neonatal period | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5389. en:usually no increased fragility of hair --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually no increased fragility of hair | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5390. en:usually occurs in children younger than 5 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually occurs in children younger than 5 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5391. en:usually occurs in young adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually occurs in young adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5392. en:usually occurs in young adults --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually occurs in young adults | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5393. en:usually poor response to steroid treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually poor response to steroid treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5394. en:usually presents in third to fourth decade (but onset can range from childhood to elderly) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually presents in third to fourth decade (but onset can range from childhood to elderly) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5395. en:usually progressive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually progressive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5396. en:usually shows early age at onset (range 1 to 7 years, mean 4.6 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually shows early age at onset (range 1 to 7 years, mean 4.6 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5397. en:usually sporadic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually sporadic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5398. en:usually sporadic disorder resulting from de novo 22q11.2 deletion --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually sporadic disorder resulting from de novo 22q11.2 deletion | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5399. en:usually sporadic, but 1-2% of cases are familial --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually sporadic, but 1-2% of cases are familial | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5400. en:usually sporadic, few cases described with autosomal dominant inheritance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:usually sporadic, few cases described with autosomal dominant inheritance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5401. en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5402. 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:incidence of 1 in 250,000 births
    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:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5403. en:variable abnormalities --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable abnormalities | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5404. en:variable age at diagnosis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at diagnosis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5405. en:variable age at onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5406. en:variable age at onset (8 to 62 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (8 to 62 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5407. en:variable age at onset (birth to adolescence) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (birth to adolescence) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5408. en:variable age at onset (birth to adult) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (birth to adult) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5409. en:variable age at onset (childhood to adult) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (childhood to adult) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5410. en:variable age at onset (childhood to adulthood) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (childhood to adulthood) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5411. en:variable age at onset (childhood to age 50) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (childhood to age 50) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5412. en:variable age at onset (earliest reported 7 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (earliest reported 7 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5413. en:variable age at onset (infant to adult) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (infant to adult) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5414. en:variable age at onset (range 10 to 50 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (range 10 to 50 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5415. en:variable age at onset (range 14 to 50 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (range 14 to 50 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5416. en:variable age at onset (range 15 to 60 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (range 15 to 60 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5417. en:variable age at onset (range 2 to 48 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (range 2 to 48 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5418. en:variable age at onset (range 2 to 59 years, mean 24 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (range 2 to 59 years, mean 24 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5419. en:variable age at onset (range 25 to 78 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (range 25 to 78 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5420. en:variable age at onset (range 4 to 40 years, mostly in first or second decade) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (range 4 to 40 years, mostly in first or second decade) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5421. en:variable age at onset (range 6 to 54 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (range 6 to 54 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5422. en:variable age at onset (range 8 to 60 years, mean 32) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (range 8 to 60 years, mean 32) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5423. en:variable age at onset (range birth to 60 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (range birth to 60 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5424. en:variable age at onset (range childhood to adult) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (range childhood to adult) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5425. en:variable age at onset (range childhood to adulthood) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (range childhood to adulthood) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5426. en:variable age at onset (range childhood to late adult) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (range childhood to late adult) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5427. en:variable age at onset (range childhood to mid-sixties) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (range childhood to mid-sixties) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5428. en:variable age at onset (range first to fourth decade) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (range first to fourth decade) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5429. en:variable age at onset (range first to third decade) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (range first to third decade) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5430. en:variable age at onset (range from early childhood to mid-adult) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (range from early childhood to mid-adult) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5431. en:variable age at onset (range infancy to 30 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (range infancy to 30 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5432. en:variable age at onset (range infancy to adulthood) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (range infancy to adulthood) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5433. en:variable age at onset (range infancy to late adulthood) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (range infancy to late adulthood) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5434. en:variable age at onset (range late infancy to adulthood) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (range late infancy to adulthood) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5435. en:variable age at onset (range teens to late adult) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (range teens to late adult) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5436. en:variable age at onset (usually 20 to 30 years of age) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset (usually 20 to 30 years of age) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5437. en:variable age at onset from childhood to adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset from childhood to adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5438. en:variable age at onset of seizures --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset of seizures | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5439. en:variable age at onset, but usually in childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset, but usually in childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5440. en:variable age at onset, early childhood to adult --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset, early childhood to adult | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5441. en:variable age at onset, from birth to ninth decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset, from birth to ninth decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5442. en:variable age at onset, infancy to adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset, infancy to adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5443. en:variable age at onset, most often in second decade --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset, most often in second decade | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5444. en:variable age at onset, mostly in third decade (range teenage years to fourth decade) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset, mostly in third decade (range teenage years to fourth decade) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5445. en:variable age at onset, range from infancy to adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset, range from infancy to adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5446. en:variable age at onset, range infancy to adult --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset, range infancy to adult | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5447. en:variable age at onset, ranges from third to fifth decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset, ranges from third to fifth decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5448. en:variable age at onset, ranging from 18 months to 27 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset, ranging from 18 months to 27 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5449. en:variable age at onset, ranging from childhood to adult --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset, ranging from childhood to adult | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5450. en:variable age at onset, ranging from childhood to late adulthood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset, ranging from childhood to late adulthood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5451. en:variable age at onset, usually in first decade, but can occur later --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age at onset, usually in first decade, but can occur later | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5452. en:variable age of onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age of onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5453. en:variable age of onset (6 to 35 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age of onset (6 to 35 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5454. en:variable age of onset (childhood to adult) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age of onset (childhood to adult) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5455. en:variable age of onset (childhood to adulthood) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age of onset (childhood to adulthood) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5456. en:variable age of onset (childhood to young adulthood) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age of onset (childhood to young adulthood) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5457. en:variable age of onset (first to third decades) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age of onset (first to third decades) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5458. en:variable age of onset (infancy to 63 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age of onset (infancy to 63 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5459. en:variable age of onset (range 1 to 30 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age of onset (range 1 to 30 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5460. en:variable age of onset (range 1-40 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age of onset (range 1-40 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5461. en:variable age of onset (range 13 to 67 years, median 48 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age of onset (range 13 to 67 years, median 48 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5462. en:variable age of onset (range 4 to 47 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age of onset (range 4 to 47 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5463. en:variable age of onset (range early childhood to adult) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age of onset (range early childhood to adult) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5464. en:variable age of onset (range first to third decade) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age of onset (range first to third decade) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5465. en:variable age of onset of parkinsonism (first decade to adulthood) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age of onset of parkinsonism (first decade to adulthood) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5466. en:variable age of onset of renal manifestations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age of onset of renal manifestations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5467. en:variable age of onset, from 6 to 50 years of age --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age of onset, from 6 to 50 years of age | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5468. en:variable age of onset, from early childhood to seventh decade of life --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age of onset, from early childhood to seventh decade of life | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5469. en:variable age of onset, ranging from 11 to 50 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable age of onset, ranging from 11 to 50 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5470. en:variable cardiac defects --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable cardiac defects | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5471. en:variable cataract phenotypes within a family --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable cataract phenotypes within a family | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5472. en:variable clinical features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable clinical features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5473. en:variable clinical phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable clinical phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5474. en:variable clinical presentation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable clinical presentation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5475. en:variable clinical presentation ranging from acute onset to normal adult --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable clinical presentation ranging from acute onset to normal adult | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5476. en:variable clinical severity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable clinical severity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5477. en:variable degree of severity of widening and deviation of fifth fingers, both within and between affected individuals --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable degree of severity of widening and deviation of fifth fingers, both within and between affected individuals | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5478. en:variable disease severity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable disease severity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5479. en:variable distribution, may be focal, segmental, multifocal, or generalized --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable distribution, may be focal, segmental, multifocal, or generalized | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5480. en:variable duration (minutes to hours) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable duration (minutes to hours) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5481. en:variable dysmorphic features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable dysmorphic features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5482. en:variable expression and severity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable expression and severity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5483. en:variable expression in females otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable expression in females otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5484. en:variable expressivity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable expressivity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5485. en:variable expressivity in families --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable expressivity in families | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5486. en:variable expressivity of each feature --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable expressivity of each feature | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5487. en:variable expressivity within a family --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable expressivity within a family | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5488. en:variable expressivity, some patients may be clinically asymptomatic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable expressivity, some patients may be clinically asymptomatic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5489. en:variable extraneurologic features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable extraneurologic features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5490. en:variable facial dysmorphic features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable facial dysmorphic features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5491. en:variable features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5492. en:variable features and severity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable features and severity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5493. en:variable frequency (2 per day up to 1 per month) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable frequency (2 per day up to 1 per month) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5494. en:variable frequency (daily to monthly) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable frequency (daily to monthly) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5495. en:variable frequency (weekly to yearly) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable frequency (weekly to yearly) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5496. en:variable frequency and duration of episodes --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable frequency and duration of episodes | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5497. en:variable frequency and severity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable frequency and severity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5498. en:variable heat tolerance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable heat tolerance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5499. en:variable ictal semiology --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable ictal semiology | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5500. en:variable infectious phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable infectious phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5501. en:variable involvement of hematologic parameters --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable involvement of hematologic parameters | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5502. en:variable manifestation of features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable manifestation of features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5503. en:variable manifestations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable manifestations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5504. en:variable neurologic phenotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable neurologic phenotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5505. en:variable neuroradiologic findings --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable neuroradiologic findings | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5506. en:variable number of nails involved --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable number of nails involved | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5507. en:variable pattern of body involvement although symptoms may predominate in upper or lower body --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable pattern of body involvement although symptoms may predominate in upper or lower body | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5508. en:variable penetrance --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable penetrance | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5509. en:variable penetrance and expressivity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable penetrance and expressivity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5510. en:variable penetrance of these features --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable penetrance of these features | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5511. en:variable phenotype (myotonia may or may not be present) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable phenotype (myotonia may or may not be present) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5512. en:variable phenotype (range from completely female to males with mild undermasculinization) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable phenotype (range from completely female to males with mild undermasculinization) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5513. en:variable phenotype and severity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable phenotype and severity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5514. en:variable phenotype depending on residual enzyme activity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable phenotype depending on residual enzyme activity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5515. en:variable phenotype ranging from woolly to sparse hair, even within a single family --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable phenotype ranging from woolly to sparse hair, even within a single family | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5516. en:variable phenotype within families --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable phenotype within families | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5517. en:variable phenotype within families ranging from woolly hair to hypotrichosis --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable phenotype within families ranging from woolly hair to hypotrichosis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5518. en:variable phenotype, some patients have very mild symptoms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable phenotype, some patients have very mild symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5519. en:variable phenotypic expression --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable phenotypic expression | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5520. en:variable presentation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable presentation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5521. en:variable presentation and evolution of symptoms --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable presentation and evolution of symptoms | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5522. en:variable presentation and manifestations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable presentation and manifestations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5523. en:variable progression --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable progression | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5524. en:variable progression rate --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable progression rate | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5525. en:variable response to acetazolamide and carbamazepine --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable response to acetazolamide and carbamazepine | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5526. en:variable response to acetylcholinesterase inhibitors --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable response to acetylcholinesterase inhibitors | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5527. en:variable response to levodopa treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable response to levodopa treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5528. en:variable response to steroid treatment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable response to steroid treatment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5529. en:variable response to vitamin b12 therapy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable response to vitamin b12 therapy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5530. en:variable severity (in patients with hsan2d) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable severity (in patients with hsan2d) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5531. en:variable severity (mild symptoms to severe handicap) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable severity (mild symptoms to severe handicap) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5532. en:variable severity and progression --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable severity and progression | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5533. en:variable severity of brain malformations --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable severity of brain malformations | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5534. en:variable severity of phenotype and other features may be present --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable severity of phenotype and other features may be present | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5535. en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5536. en:variable severity that correlates with rate and magnitude of neuronal protein accumulation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable severity that correlates with rate and magnitude of neuronal protein accumulation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5537. en:variable severity, correlates with age at onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable severity, correlates with age at onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5538. en:variable severity, even within families --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable severity, even within families | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5539. en:variable severity, intrafamilial --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable severity, intrafamilial | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5540. en:variable severity, ranging from 'typical' to 'severe' disease --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable severity, ranging from 'typical' to 'severe' disease | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5541. en:variable severity, ranging from central severe to peripheral to transient --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable severity, ranging from central severe to peripheral to transient | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5542. en:variable severity, some patients have a protracted course with little neurologic involvement --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable severity, some patients have a protracted course with little neurologic involvement | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5543. en:variable survival --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable survival | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5544. en:variable survival (some neonatal lethality) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variable survival (some neonatal lethality) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5545. en:variably expressivity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variably expressivity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5546. en:variably severity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variably severity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5547. en:variant at may present with dystonia only --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variant at may present with dystonia only | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5548. en:variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5549. en:variation in slc24a5 has also been associated with variation in skin color (shep4) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:variation in slc24a5 has also been associated with variation in skin color (shep4) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5550. en:vasculitic symptoms are associated with cold exposure (in some patients) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:vasculitic symptoms are associated with cold exposure (in some patients) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5551. en:vast majority of heterozygotes are asymptomatic --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:vast majority of heterozygotes are asymptomatic | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5552. en:venous malformations previously referred to as angiomas or hemangiomas --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:venous malformations previously referred to as angiomas or hemangiomas | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5553. en:vertical eye movement abnormalities appear before horizontal eye movement abnormalities --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:vertical eye movement abnormalities appear before horizontal eye movement abnormalities | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5554. en:very few patients reported --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:very few patients reported | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5555. en:very low occurrence of retinal, hepatic, pancreatic, and renal anomalies --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:very low occurrence of retinal, hepatic, pancreatic, and renal anomalies | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5556. en:very rare --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:very rare | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5557. en:very slow progression --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:very slow progression | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5558. en:very variable phenotype, with some patients having many features and others only a few --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:very variable phenotype, with some patients having many features and others only a few | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5559. en:vhl type 1 - renal carcinoma and hemangioblastoma --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:vhl type 1 - renal carcinoma and hemangioblastoma | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5560. en:vhl type 2a - hemangioblastoma and pheochromocytoma --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:vhl type 2a - hemangioblastoma and pheochromocytoma | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5561. en:vhl type 2b - renal carcinoma and pheochromocytoma --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:vhl type 2b - renal carcinoma and pheochromocytoma | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5562. en:vhl type 2c - pheochromocytoma only --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:vhl type 2c - pheochromocytoma only | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5563. en:visceral manifestations are less apparent --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:visceral manifestations are less apparent | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5564. en:visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5565. en:visual acuity varies considerably, depending on the presence of secondary defects such as retinal exudates or detachment --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:visual acuity varies considerably, depending on the presence of secondary defects such as retinal exudates or detachment | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5566. en:visual and hearing loss are slowly progressive --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:visual and hearing loss are slowly progressive | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5567. en:visual field and color defects invariably present only in patients with advanced loss of vision --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:visual field and color defects invariably present only in patients with advanced loss of vision | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5568. en:visual symptoms present by late childhood --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:visual symptoms present by late childhood | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5569. en:waddling gait --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:waddling gait | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5570. en:waddling gait noted at age 15-20 months --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:waddling gait noted at age 15-20 months | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5571. en:waddling gait, often presenting sign in second year --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:waddling gait, often presenting sign in second year | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5572. en:waddling gate --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:waddling gate | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5573. en:walking delay --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:walking delay | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5574. en:warm weather and alcohol are alleviating factors --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:warm weather and alcohol are alleviating factors | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5575. en:wasting of hands often occurs first --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:wasting of hands often occurs first | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5576. en:wasting of the hands is the first and most prominent manifestation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:wasting of the hands is the first and most prominent manifestation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5577. en:waxing and waning cardiomyopathy (in some patients) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:waxing and waning cardiomyopathy (in some patients) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5578. en:weakness during pregnancy in affected females --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:weakness during pregnancy in affected females | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5579. en:wheelchair use at 20-30 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:wheelchair use at 20-30 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5580. en:wheelchair use by 10-30 years --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:wheelchair use by 10-30 years | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5581. en:wheelchair-bound after 2 decades of disease onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:wheelchair-bound after 2 decades of disease onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5582. en:wheelchair-bound average 12 years after onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:wheelchair-bound average 12 years after onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5583. en:wide clinical variability --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:wide clinical variability | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5584. en:wide phenotypic variability --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:wide phenotypic variability | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5585. en:wide phenotypic variability and severity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:wide phenotypic variability and severity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5586. en:wide phenotypic variation --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:wide phenotypic variation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5587. en:wide range of onset from childhood to adult (10 to 50 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:wide range of onset from childhood to adult (10 to 50 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5588. en:wide range of severity between affected members of the same family --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:wide range of severity between affected members of the same family | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5589. en:wide spectrum of severity --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:wide spectrum of severity | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5590. en:women affected more than men (3:2) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:women affected more than men (3:2) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5591. en:women are more often affected --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:women are more often affected | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5592. en:women may be mildly affected --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:women may be mildly affected | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5593. en:worldwide frequency of 1 in 100,000 infants --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:worldwide frequency of 1 in 100,000 infants | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5594. en:worldwide frequency of 1 in 2,000,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:worldwide frequency of 1 in 2,000,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5595. en:worldwide incidence of 1 in 185,000 live births --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:worldwide incidence of 1 in 185,000 live births | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5596. en:worldwide prevalence of 1/100,000 --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:worldwide prevalence of 1/100,000 | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5597. en:worsened by immunosuppressive therapy --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:worsened by immunosuppressive therapy | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5598. en:worsening of hand weakness with cold (in some) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:worsening of hand weakness with cold (in some) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5599. en:worsening of symptoms during sleep --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:worsening of symptoms during sleep | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5600. en:x-linked inheritance could not be ruled out --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:x-linked inheritance could not be ruled out | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5601. en:x-linked mental retardation-hypotonic facies syndrome (309580) is an allelic disorder without alpha-thalassemia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:x-linked mental retardation-hypotonic facies syndrome (309580) is an allelic disorder without alpha-thalassemia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5602. en:x-linked recessive cytochrome b-negative cgd --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:x-linked recessive cytochrome b-negative cgd | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5603. en:xy karyotype --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:xy karyotype | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5604. en:young adult onset --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:young adult onset | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5605. en:young adult onset (range 13 to 50 years) --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:young adult onset (range 13 to 50 years) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5606. en:young-adult onset (18-30 years) of sensory ataxia --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:young-adult onset (18-30 years) of sensory ataxia | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5607. en:z allele most common, only in caucasians --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:z allele most common, only in caucasians | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5608. en:zinc deficiency in breastfed offspring resolves after weaning --- r_associated #0: 20 --> en:incidence of 1 in 250,000 births
    n1=en:zinc deficiency in breastfed offspring resolves after weaning | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
  5609. Arthralgie --- r_associated #0: 15 --> en:incidence of 1 in 250,000 births
    n1=Arthralgie | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=15
  5610. Douleur articulaire --- r_associated #0: 15 --> en:incidence of 1 in 250,000 births
    n1=Douleur articulaire | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=15
  5611. Hyde (prurigo nodulaire de) --- r_associated #0: 15 --> en:incidence of 1 in 250,000 births
    n1=Hyde (prurigo nodulaire de) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=15
  5612. Malformation congénitale --- r_associated #0: 15 --> en:incidence of 1 in 250,000 births
    n1=Malformation congénitale | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=15
  5613. en:hydramnion --- r_associated #0: 15 --> en:incidence of 1 in 250,000 births
    n1=en:hydramnion | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=15
  5614. malentendant (enfant) --- r_associated #0: 15 --> en:incidence of 1 in 250,000 births
    n1=malentendant (enfant) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=15
  5615. moniteur de glucose sanguin avec synthétiseur vocal intégré --- r_associated #0: 15 --> en:incidence of 1 in 250,000 births
    n1=moniteur de glucose sanguin avec synthétiseur vocal intégré | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=15
  5616. Malformation --- r_associated #0: 10 --> en:incidence of 1 in 250,000 births
    n1=Malformation | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=10
  5617. Polyhydramnios --- r_associated #0: 10 --> en:incidence of 1 in 250,000 births
    n1=Polyhydramnios | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=10
  5618. atrophie musculaire, ataxie, rétinite pigmentaire et diabète sucré --- r_associated #0: 10 --> en:incidence of 1 in 250,000 births
    n1=atrophie musculaire, ataxie, rétinite pigmentaire et diabète sucré | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=10
  5619. en:cacomorphosis --- r_associated #0: 10 --> en:incidence of 1 in 250,000 births
    n1=en:cacomorphosis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=10
  5620. en:hypoacousic child --- r_associated #0: 10 --> en:incidence of 1 in 250,000 births
    n1=en:hypoacousic child | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=10
  5621. hétérozygotes asymptomatiques susceptibles à la toxicité du plomb --- r_associated #0: 10 --> en:incidence of 1 in 250,000 births
    n1=hétérozygotes asymptomatiques susceptibles à la toxicité du plomb | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=10
  5622. intolérance alimentaire --- r_associated #0: 10 --> en:incidence of 1 in 250,000 births
    n1=intolérance alimentaire | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=10
  5623. mortinatalité --- r_associated #0: 10 --> en:incidence of 1 in 250,000 births
    n1=mortinatalité | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=10
  5624. polyglucosanes (neuropathie à ) --- r_associated #0: 10 --> en:incidence of 1 in 250,000 births
    n1=polyglucosanes (neuropathie à ) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=10
  5625. quadriplégie spastique, rétinite pigmentaire et retard mental --- r_associated #0: 10 --> en:incidence of 1 in 250,000 births
    n1=quadriplégie spastique, rétinite pigmentaire et retard mental | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=10
  5626. rétinite pigmentaire (classification de Fishman) --- r_associated #0: 10 --> en:incidence of 1 in 250,000 births
    n1=rétinite pigmentaire (classification de Fishman) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=10
  5627. troubles congénitaux --- r_associated #0: 10 --> en:incidence of 1 in 250,000 births
    n1=troubles congénitaux | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=10
  5628. Lester (signe de) --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=Lester (signe de) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5629. Létal --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=Létal | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5630. Maladie opportuniste --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=Maladie opportuniste | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5631. Rétinite pigmentaire --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=Rétinite pigmentaire | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5632. disomie uniparentale --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=disomie uniparentale | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5633. hydramnios aigu --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=hydramnios aigu | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5634. hydramnios chronique --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=hydramnios chronique | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5635. hydranencéphalie --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=hydranencéphalie | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5636. hydrargirose --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=hydrargirose | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5637. hydrargyrie --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=hydrargyrie | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5638. hydrargyrisme --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=hydrargyrisme | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5639. hydratase --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=hydratase | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5640. hydratation cutanée --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=hydratation cutanée | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5641. hydrate de carbone --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=hydrate de carbone | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5642. hydrencéphalie --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=hydrencéphalie | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5643. hydrencéphalocèle --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=hydrencéphalocèle | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5644. hydrine --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=hydrine | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5645. hydroa --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=hydroa | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5646. hydroa aestivalis --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=hydroa aestivalis | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5647. hydroa vacciniforme de Bazin --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=hydroa vacciniforme de Bazin | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5648. hydroadénome --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=hydroadénome | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5649. hydrocalice --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=hydrocalice | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5650. hydrocarboné --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=hydrocarboné | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5651. hydrocarbure --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=hydrocarbure | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5652. malf ormation dysraphique --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=malf ormation dysraphique | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5653. malformation kystique adénomatoïde du poumon --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=malformation kystique adénomatoïde du poumon | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5654. malformation luxante de la hanche --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=malformation luxante de la hanche | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5655. malformation mamelonnaire --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=malformation mamelonnaire | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5656. malformation mammaire --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=malformation mammaire | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5657. malformation ombilicale --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=malformation ombilicale | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5658. malformation utérine --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=malformation utérine | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5659. malformation vaginale --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=malformation vaginale | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5660. malformation vasculaire cérébrale du nourrisson --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=malformation vasculaire cérébrale du nourrisson | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5661. malformations de la charnière occipitocervicale --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=malformations de la charnière occipitocervicale | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5662. symptômes autonomes associés aux céphalées --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=symptômes autonomes associés aux céphalées | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
  5663. syndrome de prédisposition tumorale --- r_associated #0: 5 --> en:incidence of 1 in 250,000 births
    n1=syndrome de prédisposition tumorale | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=5
Le service Rézo permet d'énumérer les relations existant pour un terme. Ce service est interrogeable par programme.
Projet JeuxDeMots - url: http://www.jeuxdemots.org
contact: mathieu.lafourcade@lirmm.fr